Medline Abstracts, Arthrogryposis, 1997-1998

J Pediatr Orthop B 1997 Jul;6(3):157-8

Arthrogryposis multiplex congenita.

Grill F

Publication Types:

  • Comment
  • Editorial

Comments:

  • Comment on: J Pediatr Orthop B 1997 Jul;6(3):159-66

MeSH Terms:

  • Arthrogryposis/therapy*
  • Arthrogryposis/physiopathology
  • Arthrogryposis/genetics
  • Child, Preschool
  • Combined Modality Therapy
  • Contracture/therapy
  • Contracture/physiopathology
  • Contracture/genetics
  • Female
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Prognosis

PMID: 9260642, UI: 97407409

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AORN J 1997 Jul;66(1):146

Astute assessment by a perioperative nurse in an expanded role saves patient from malignant hyperthermia.

Murphy JM

Children's Hospital, Boston, USA.

MeSH Terms:

  • Adolescence
  • Arthrogryposis/surgery
  • Arthrogryposis/nursing*
  • Arthrogryposis/complications
  • Case Report
  • Human
  • Male
  • Malignant Hyperthermia/prevention & control*
  • Malignant Hyperthermia/nursing
  • Malignant Hyperthermia/complications
  • Nurse Practitioners
  • Nursing Assessment*
  • Pediatric Nursing
  • Perioperative Nursing*

PMID: 9220072, UI: 97363780

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Eur J Pediatr Surg 1997 Jun;7(3):163-5

The fate of undescended testes in patients with gastroschisis.

Levard G, Laberge JM

Department of Surgery, Montreal Children's Hospital, McGill University, Quebec, Canada.

Cryptorchidism is frequently associated with gastroschisis, yet little is published on its management in such circumstances. In a review of 10 consecutive boys with gastroschisis since 1980, 4 had undescended testes. Gestational age and birth weight did not differ from the 6 boys with normally descended testes. The first two patients had associated arthrogryposis multiplex congenita. The first underwent bilateral orchidopexy at 9 years of age for inguinal testes. In the second patient, the left testis was intraabdominal at the level of the sigmoid colon at birth; at 3 months of age, when a left inguinal hernia repair was required, left groin exploration revealed the testis at the internal ring and orchidopexy was performed successfully. In the third patient the left spermatic vessels were divided at the time of gastroschisis repair and the testis anchored in the prebubic area. The second-stage orchidopexy was performed at 16 months. In the last patient the intraabdominal testis could be placed in a scrotal pouch without mobilisation or division of the vessels. From our experience and a review of the literature we conclude that: 1) undescended testes are frequently associated with gastroschisis; 2) mechanical factors rather than prematurity are likely responsible for this association; 3) if the testis easily reaches the scrotum, orchidopexy can be done safely at the time of gastroschisis repair; 4) if the testis does not reach easily and appears to have a gubernaculum, it may be preferable to leave it in place since spontaneous descent can occur.

MeSH Terms:

  • Abdominal Muscles/surgery
  • Abdominal Muscles/abnormalities*
  • Abnormalities, Multiple/surgery*
  • Adolescence
  • Arthrogryposis/surgery
  • Child
  • Child, Preschool
  • Cryptorchidism/surgery*
  • Follow-Up Studies
  • Hernia, Inguinal/surgery
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Postoperative Complications/etiology
  • Testis/surgery

PMID: 9241504, UI: 97385490

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Pediatr Pulmonol 1997 Jun;23(6):457-9

Freeman Sheldon syndrome: severe upper airway obstruction requiring neonatal tracheostomy.

Robinson PJ

Department of Thoracic Medicine, Royal Children's Hospital, Melbourne, Australia.

Publication Types:

  • Review
  • Review of reported cases

MeSH Terms:

  • Abnormalities, Multiple*
  • Airway Obstruction/surgery*
  • Airway Obstruction/physiopathology
  • Airway Obstruction/etiology*
  • Arthrogryposis*
  • Case Report
  • Craniofacial Abnormalities*
  • Follow-Up Studies
  • Foot Deformities, Congenital*
  • Human
  • Infant, Newborn
  • Syndrome
  • Tracheostomy*
  • Wrist/abnormalities*

PMID: 9220529, UI: 97364251

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J Formos Med Assoc 1997 Jun;96(6):424-8

Surgical treatment of congenital convex pes valgus.

Yen CC, Huang SC

Department of Orthopedic Surgery, National Taiwan University Hospital, Taipei, ROC.

Congenital convex pes valgus is a rare, complex and heterogeneous anomaly of the foot, which is difficult to treat. From 1985 to 1994, we treated 14 patients (20 feet) with this deformity. There were six boys and eight girls. Six patients had bilateral involvement. Their ages at the time of surgery ranged from 4 to 32 months (mean, 13 mo). In eight patients (10 feet), the etiology was arthrogryposis multiplex congenita. The eitiology was unknown in six patients (10 feet). Associated problems included hip dislocation in seven patients, flexion or extension contractures of the knee in six patients, and clubfoot deformity in three patients. One patient had undergone previous surgery for release of a knee contracture. To achieve a plantigrade and balanced foot, all patients had one-stage surgical open reduction and circumferential release for the correction of deformities. At a minimum of 2 years following surgery, 11 patients (16 feet) had satisfactory results determined by a 10-point evaluation system based on both clinical and radiographic features. Satisfactory results and ambulatory prognosis were related to the etiology and severity of each patient's condition. Two patients (two feet) had scars with poor cosmetic appearance and two patients (three feet) had inadequate correction. We concluded that with adequate soft tissue release and complete talocalcaneonavicular joint reduction in one-stage surgery, proper postoperative maintenance, and physical therapy, satisfactory results in the treatment of congenital convex pes valgus can be achieved.

MeSH Terms:

  • Arthrogryposis/complications
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Foot Deformities, Congenital/surgery*
  • Foot Deformities, Congenital/etiology
  • Human
  • Infant
  • Male
  • Orthopedics/methods
  • Patient Satisfaction
  • Postoperative Complications

PMID: 9216165, UI: 97359211

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Am J Med Genet 1997 May 16;70(2):114-7

Heterogeneity in adducted thumbs sequence.

Moldavsky M, Lerman-Sagie T, Kutai M, Legum C, Harel S

Abarbanel Mental Health Center, Bat-Yam, Israel.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

Publication Types:

  • Review
  • Review of reported cases

MeSH Terms:

  • Abnormalities, Multiple*
  • Case Report
  • Foot Deformities, Congenital
  • Human
  • Infant
  • Male
  • Mental Retardation*
  • Microcephaly*
  • Thumb/abnormalities*
  • Toes/abnormalities*

PMID: 9128927, UI: 97275033

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Ultrasound Obstet Gynecol 1997 May;9(5):310-3
Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation.
Hyett J, Noble P, Sebire NJ, Snijders R, Nicolaides KH
Harris Birthright Research Centre for Fetal Medicine, Kings College Hospital Medical School, London, UK.
This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. In seven (26%) of the cases there was nuchal edema. In two fetuses with arthrogryposis that were examined at 13 weeks of gestation the nuchal translucency thickness was above the 99th centile of the normal range for crown-rump length. In three other women with previously affected pregnancies, ultrasound examination at 10-14 weeks demonstrated normal fetal nuchal translucency thickness and none of these fetuses were subsequently found to have arthrogryposis. These findings suggest that lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at 10-14 weeks of gestation.

MeSH Terms:

  • Adult
  • Arthrogryposis/ultrasonography*
  • Arthrogryposis/genetics
  • Automatic Data Processing
  • Female
  • Gestational Age
  • Human
  • Karyotyping
  • Neck/ultrasonography*
  • Pregnancy
  • Pregnancy Trimester, First
  • Retrospective Studies
  • Ultrasonography, Prenatal/methods*

PMID: 9201873, UI: 97345516

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Am J Otolaryngol 1997 May-Jun;18(3):226-8

Laryngotracheal stenosis in a case of Pena-Shokier syndrome.

Billings KR, Kerner MM, Padbury JF, Abemayor E

Division of Head and Neck Surgery, UCLA School of Medicine 90024-1624, USA.

MeSH Terms:

  • Abnormalities, Multiple*
  • Arthrogryposis/complications
  • Brain/abnormalities
  • Case Report
  • Clubfoot/complications
  • Constriction, Pathologic
  • Face/abnormalities
  • Human
  • Infant, Newborn
  • Laryngeal Diseases/complications*
  • Lung/abnormalities
  • Male
  • Syndrome
  • Tracheal Diseases/complications*

PMID: 9164631, UI: 97307440

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Neuropediatrics 1997 Apr;28(2):116-9

Fetal akinesia sequence caused by nemaline myopathy.

Lammens M, Moerman P, Fryns JP, Lemmens F, van de Kamp GM, Goemans N, Dom R

Stichting PAMM, Catharinaziekenhuis, Eindhoven, The Netherlands.

Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy.

MeSH Terms:

  • Abnormalities, Multiple/etiology*
  • Arthrogryposis/pathology
  • Arthrogryposis/etiology*
  • Case Report
  • Craniofacial Abnormalities/pathology
  • Craniofacial Abnormalities/etiology*
  • Family Health
  • Female
  • Human
  • Hydrops Fetalis/etiology*
  • Hypokinesia/etiology
  • Hypokinesia/complications*
  • Infant, Newborn
  • Male
  • Muscles/pathology
  • Nemaline Myopathy/diagnosis
  • Nemaline Myopathy/complications*
  • Pregnancy
  • Ultrasonography, Prenatal

PMID: 9208412, UI: 97352130

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Brain Dev 1997 Apr;19(3):187-96

The spectrum of arthrogryposis in 33 chinese children.

Wong V

Department of Paediatrics, University of Hong Kong, Queen Mary Hospital, Hong Kong.

The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or mental retardation; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1). Three children died, one each of arthrogryposis multiplex congenita, congenital contractural arachnodactyly and myotonia dystrophica. The majority had a good prognosis with independent function and mobility.

MeSH Terms:

  • Abnormalities, Multiple/diagnosis
  • Adolescence
  • Adult
  • Amniotic Band Syndrome/diagnosis
  • Amniotic Band Syndrome/complications
  • Arthrogryposis/mortality
  • Arthrogryposis/complications
  • Arthrogryposis/classification*
  • Child
  • Child, Preschool
  • Female
  • Fetal Alcohol Syndrome/diagnosis
  • Fetal Alcohol Syndrome/complications
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Mental Retardation/diagnosis
  • Mental Retardation/complications
  • Mongoloid Race*
  • Muscular Dystrophy/diagnosis
  • Muscular Dystrophy/complications
  • Myotonia/diagnosis
  • Myotonia/complications
  • Osteochondrodysplasias/diagnosis
  • Osteochondrodysplasias/complications
  • Prognosis

PMID: 9134190, UI: 97279816

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Am J Med Genet 1997 Mar 3;69(1):73-8

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.

Johnson VP, Keppen LD, Carpenter MS, Randall BB, Newby PE

Department of Obstetrics/Gynecology, University of South Dakota School of Medicine, Sioux Falls, USA.

We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible in two siblings. This appears to be an autosomal recessive lethal trait. A literature review revealed two reports of four similar or related cases.

MeSH Terms:

  • Arthrogryposis/radiography*
  • Case Report
  • Dysostoses/radiography*
  • Female
  • Human
  • Infant, Newborn
  • Pterygium/radiography*
  • Syndrome
  • Thoracic Vertebrae/radiography*

PMID: 9066887, UI: 97219596

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Res Vet Sci 1997 Mar-Apr;62(2):195-8

Teratogenicity of Aino virus in the chick embryo.

Kitano Y, Yasuda N, Shimizu T, Ohzono H, Iwamoto T

Laboratory of Veterinary Pathology, Faculty of Agriculture, Kagoshima University, Japan.

Aino virus (JaNAr 28 strain), a possible agent of a congenital anomaly of calves, was inoculated into the yolk sac of chick embryos at a dose of 10(2), 10(3), 10(4) or 10(5) TCID50 0.2 ml-1 at four, six or eight days of incubation. At 21 days of incubation all the unhatched embryos or hatched chickens in the experimental and control groups were sacrificed for pathological examination. The incidence of hydranencephaly, cerebellar hypoplasia or agenesis and arthrogryposis or scoliosis was highest (85 per cent in the chicks inoculated with 10(3) TCID50 0.2 ml-1 at eight days of incubation. The lesions were very similar to those found in congenital abnormalities in calves suspected of a natural infection with Aino virus.

MeSH Terms:

  • Abnormalities/virology
  • Abnormalities/veterinary*
  • Abnormalities/epidemiology
  • Animal
  • Arthrogryposis/veterinary
  • Arthrogryposis/etiology
  • Arthrogryposis/epidemiology
  • Bunyaviridae Infections/veterinary*
  • Bunyaviridae Infections/epidemiology
  • Bunyaviridae Infections/complications
  • Cerebellar Diseases/veterinary
  • Cerebellar Diseases/etiology
  • Cerebellar Diseases/epidemiology
  • Cerebellum/abnormalities
  • Chick Embryo/virology*
  • Chick Embryo/growth & development
  • Chick Embryo/abnormalities
  • Chickens*
  • Edema/veterinary
  • Edema/etiology
  • Edema/epidemiology
  • Hydranencephaly/veterinary
  • Hydranencephaly/etiology
  • Hydranencephaly/epidemiology
  • Incidence
  • Muscle, Skeletal/abnormalities
  • Poultry Diseases/virology*
  • Poultry Diseases/epidemiology
  • Scoliosis/veterinary
  • Scoliosis/etiology
  • Scoliosis/epidemiology
  • Simbu Group Viruses/physiology*
  • Time Factors

PMID: 9243724, UI: 97387707

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Clin Genet 1997 Mar;51(3):200-4

Clinical manifestation of a severe neonatal progeroid syndrome.

Megarbane A, Loiselet J

Medical Genetics Laboratory, Faculty of Medicine, Saint Joseph University, Paris, France. megarban@dm.net.lb

A girl with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs and severe pulmonary stenosis is described. She died aged less than 6 months. An older sister was born 3 years before with the same appearance and underwent the same fatal evolution. The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes.

MeSH Terms:

  • Case Report
  • Cutis Laxa/pathology
  • Fatal Outcome
  • Female
  • Human
  • Infant, Newborn
  • Progeria/pathology*
  • Progeria/genetics
  • Progeria/complications
  • Syndrome

PMID: 9137887, UI: 97283809

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Am J Trop Med Hyg 1997 Feb;56(2):171-6

Ovine fetal malformations induced by in utero inoculation with Main Drain, San Angelo, and LaCrosse viruses.

Edwards JF, Karabatsos N, Collisson EW,
de la Concha Bermejillo A

Department of Veterinary Pathobiology, College of Veterinary Medicine, Texas A&M University, College Station, USA.

The teratogenic potential of three bunyaviruses, two California serogroup bunyaviruses, LaCrosse virus and San Angelo virus, and a Bunyamwera serogroup member, Main Drain virus, in sheep was studied following in utero inoculation of ewes in early gestation. Although Main Drain virus appeared to be most teratogenic, all three viruses induced a range of lesions including arthrogryposis, hydrocephalus, fetal death, axial skeletal deviations, anasarca, and oligohydramnios. The teratogenic effects of these viruses are identical to those described in ovine infections by Cache Valley and Akabane viruses. Demonstration of a common bunyaviral tropism for fetal tissue infection that results in congenital brain and musculoskeletal malformations provides evidence that human in utero infection by bunyaviruses could result in similar malformations in human infants.

MeSH Terms:

  • Abnormalities, Multiple/virology
  • Abnormalities, Multiple/veterinary*
  • Abnormalities, Multiple/embryology
  • Animal
  • Arthrogryposis/virology
  • Arthrogryposis/veterinary
  • Arthrogryposis/embryology
  • Bunyamwera Group Viruses/pathogenicity*
  • Bunyamwera Group Viruses/isolation & purification
  • Bunyaviridae Infections/veterinary*
  • Bunyaviridae Infections/embryology
  • Bunyaviridae Infections/complications
  • California Group Viruses/pathogenicity*
  • California Group Viruses/isolation & purification
  • Cercopithecus aethiops
  • Encephalitis, California/veterinary
  • Encephalitis, California/embryology
  • Encephalitis, California/complications
  • Female
  • Fetal Death/virology
  • Fetal Death/veterinary
  • Fetus/abnormalities*
  • Hydrocephalus/virology
  • Hydrocephalus/veterinary
  • Hydrocephalus/embryology
  • La Crosse Virus/pathogenicity
  • La Crosse Virus/isolation & purification
  • Oligohydramnios/virology
  • Oligohydramnios/veterinary
  • Pregnancy
  • Pregnancy Complications, Infectious/veterinary*
  • Sheep
  • Sheep Diseases/virology*
  • Sheep Diseases/embryology
  • Vero Cells

PMID: 9080876, UI: 97235957

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Am J Hum Genet 1997 Feb;60(2):426-32

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

Krakowiak PA, O'Quinn JR, Bohnsack JF, Watkins WS, Carey JC, Jorde LB, Bamshad M

Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.

Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.

MeSH Terms:

  • Abnormalities, Multiple/genetics*
  • Arthrogryposis/genetics*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 11*
  • Female
  • Haplotypes
  • Human
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic
  • Support, Non-U.S. Gov't
  • Syndrome

PMID: 9012416, UI: 97164609

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Arch Orthop Trauma Surg 1997;116(6-7):426-8

Congenital extension contracture of metacarpophalangeal joints.

Sakai A, Suzuki K, Nakamura T, Minami Y, Kirihara Y

Department of Orthopaedic Surgery, University of Occupational and Environmental Health, Kitakyushu, Japan.

We report a case of congenital extension contracture of the fifth metacarpophalangeal joints in a 15-year-old boy who had no associated anomalies and was successfully treated by surgery. Congenital extension contracture of bilateral metacarpophalangeal joints has not been reported previously, and the entity can be considered to be a new subgroup of distal arthrogryposis with congenital distal limb contracture.

MeSH Terms:

  • Adolescence
  • Case Report
  • Contracture/surgery
  • Contracture/radiography
  • Contracture/pathology
  • Contracture/congenital*
  • Human
  • Male
  • Metacarpophalangeal Joint*/surgery
  • Metacarpophalangeal Joint*/radiography
  • Metacarpophalangeal Joint*/pathology

PMID: 9266057, UI: 97411020

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Rev Pneumol Clin 1997;53(1):37-40

A rare cause of chronic respiratory insufficiency: arthrogryposis in adults.
[Article in French]

Rivaud E, Strecker A, Mallart A, Vallet L, Lafitte JJ

Arthrogryposis is a congenital disease leading to multiple joint ankylosis in utero observed as sequellae at birth. Deformation of the chest produces respiratory failure usually seen at birth. We report a case in an adult which required intermittent nocturnal positive pressure nasal ventilation.

MeSH Terms:

  • Adult
  • Age Factors
  • Arthrogryposis/complications*
  • Case Report
  • Chronic Disease
  • English Abstract
  • Human
  • Intermittent Positive-Pressure Ventilation
  • Kyphosis/physiopathology
  • Kyphosis/complications
  • Male
  • Respiratory Insufficiency/therapy
  • Respiratory Insufficiency/etiology*

PMID: 9181151, UI: 97325082

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Minerva Ginecol 1997 Jan-Feb;49(1-2):49-52

A rare cause of polyhydramnios: Steinert's syndrome. A clinical case report.
[Article in Italian]

Palmerio G, Rosaschino P, Castelli G, Zambetti E, Bianchi P, Martinelli D

Divisione di Ginecologia e Ostetricia, Ospedale Bolognini, Seriate, Bergamo.

Steinert's syndrome is a systemic disease with autosome mother-to-child transmission, characterized by myotonia and muscular dystrophia. The syndrome's clinical characteristics include: respiratory and alimentation diseases, facial diplegia, generalized hypotonia, areflexia, atrophy, arthrogryposis, hydramnios, retard in psychomotor development, cataract and genital disorders. A case of pregnancy occurs in Steinert syndrome's patient with hydramnios as a predominant symptom, is presented. At birth, in the congenital neonatal form, there is grave, generalized hypotonia which causes a very quick death of the newborn. There are not many characters which can be found out by ultrasound: hydramnios, reduction of fetal tone and active movements, micrognathia. Consequently it is of the utmost importance in those cases an adequate prenatal genetic counseling and a correct obstetrical management.

Publication Types:

  • Review
  • Review of reported cases

MeSH Terms:

  • Abnormalities, Multiple/pathology
  • Abnormalities, Multiple/etiology
  • Adult
  • Case Report
  • English Abstract
  • Fatal Outcome
  • Female
  • Human
  • Infant, Newborn
  • Male
  • Myotonia Atrophica/pathology
  • Myotonia Atrophica/complications*
  • Polyhydramnios/pathology
  • Polyhydramnios/etiology*
  • Pregnancy
  • Pregnancy Trimester, Third

PMID: 9162886, UI: 97253646

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Clin Genet 1997 Jan;51(1):61-4

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL

Department of Medical Genetics, Frciyes University, School of Medicine, Kayseri, Turkey.

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.

MeSH Terms:

  • Abnormalities, Multiple/genetics*
  • Adult
  • Child, Preschool
  • Chromosome Abnormalities/genetics
  • Consanguinity
  • Face/abnormalities
  • Female
  • Foot Deformities, Congenital/genetics*
  • Genes, Recessive*
  • Human
  • Hypertelorism/genetics
  • Infant
  • Infant, Newborn
  • Male
  • Pregnancy
  • Psychomotor Disorders/genetics
  • Thumb/abnormalities*
  • Turkey

PMID: 9084938, UI: 97239276

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J Formos Med Assoc 1997 Jan;96(1):30-5

Surgical treatment of clubfoot deformity in arthrogryposis multiplex congenita.

Chang CH, Huang SC

Department of Orthopedic Surgery, National Taiwan University Hospital, Taipei, ROC.

Clubfoot deformity in arthrogrypotic patients is difficult to correct, and its recurrence rate is high. We retrospectively reviewed 37 clubfeet in 20 patients with arthrogryposis multiplex congenita who were treated from 1984 to 1993. There were 11 males and nine females. Bilateral involvement was seen in 17 patients and unilateral involvement in three. The mean age at the initial surgery was 2.5 years (range 4 mo to 25 yr). Soft tissue release alone was performed on 33 feet. Primary talectomy was done on both feet of one other patient. The remaining patient (two feet) underwent triple arthrodesis. Recurrence or residual deformities were seen in 18 feet with soft tissue release, among which 12 feet underwent secondary surgeries including soft tissue release, osteotomy, talectomy and connection with Ilizarov apparatus. After the secondary surgery, four of the 12 feet still had deformities. One foot had a third surgery. Achilles tendon lengthening and osteotomy. Twenty-six feet were rated as having good results (plantigrade, painless and without obvious deformity), seven were rated fair (residual deformity requiring secondary procedures) and four had poor results (persistance or recurrence of clubfoot). Despite a high recurrence rate, clubfoot deformity in arthrogrypotic patients can be treated first with radical soft tissue release when the patient is less than 1 year of age. If the foot deformity is persistant or recurs, talectomy can achieve a plantigrade foot. Triple arthrodesis should be reserved for patients with a mature bony structure.

MeSH Terms:

  • Arthrogryposis/surgery*
  • Child, Preschool
  • Clubfoot/surgery*
  • Female
  • Human
  • Infant
  • Male
  • Retrospective Studies

PMID: 9033179, UI: 97185445

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Equine Vet J 1997 Jan;29(1):60-2

Arthrogryposis in the foal and its possible relation to autosomal trisomy.

Buoen LC, Zhang TQ, Weber AF, Turner T, Bellamy J, Ruth GR

Department of Veterinary Diagnostic Medicine, College of Veterinary Medicine, University of Minnesota, St. Paul 55108, USA.

Comments:

  • Comment in: Equine Vet J 1997 Jan;29(1):3-4

MeSH Terms:

  • Animal
  • Animals, Newborn
  • Arthrogryposis/veterinary*
  • Arthrogryposis/genetics
  • Chromosome Abnormalities/veterinary*
  • Chromosome Abnormalities/genetics
  • Chromosome Abnormalities/epidemiology
  • Female
  • Horse Diseases/genetics*
  • Horse Diseases/epidemiology
  • Horses
  • Incidence
  • Karyotyping/veterinary
  • Male
  • Phenotype
  • Support, Non-U.S. Gov't
  • Trisomy*

PMID: 9031866, UI: 97183906

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Eur J Pediatr 1997 Jan;156(1):78

Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome.

Franceschini P, Barberis L

Publication Types:

  • Comment
  • Letter

Comments:

  • Comment on: Eur J Pediatr 1995 Oct;154(10):835-9

MeSH Terms:

  • Abnormalities, Multiple*
  • Arthrogryposis*
  • Case Report
  • Cholestasis*
  • Fanconi Syndrome*
  • Human
  • Ichthyosis*
  • Infant, Newborn
  • Male
  • Syndrome

PMID: 9007499, UI: 97159983

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J Pediatr Orthop 1997 Jan-Feb;17(1):59-62

Congenital dislocation of the knee reduced spontaneously or with minimal treatment.

Haga N, Nakamura S, Sakaguchi R, Yanagisako Y, Taniguchi K, Iwaya T

Shizuoka Children's Hospital, Japan.

Six cases of congenital dislocation of the knee (CDK) reduced spontaneously or with minimal treatment were investigated. Reduction was achieved from 4 days to 3 months after birth. Clinical results were good, although in four cases, hyperextension < or = 20 degrees persisted. In view of the perinatal complications and associated anomalies, CDK reduced with no or minimal treatment is supposed to be a category of congenital postural deformity. We believe that it is advisable to wait 1 month for spontaneous reduction of CDK in cases not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome.

Comments:

  • Comment in: J Pediatr Orthop 1998 Mar-Apr;18(2):273-4

MeSH Terms:

  • Child
  • Child, Preschool
  • Dislocations/therapy*
  • Dislocations/congenital
  • Female
  • Follow-Up Studies
  • Human
  • Infant
  • Infant, Newborn
  • Knee Joint*
  • Male
  • Range of Motion, Articular
  • Remission, Spontaneous
  • Treatment Outcome

PMID: 8989703, UI: 97143692

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