Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically, radiographically, and sonographically. The subjects were three adults, one adolescent, and three children under 3 years of age. One child was the offspring of a first cousin marriage which showed quasi-dominant inheritance. Six subjects had short stature owing to widespread vertebral dyssegmentation with variable reduction in rib number and rib fusion. One subject was of normal stature, had limited vertebral dyssegmentation, an extra rib, and no rib fusion. Five subjects showed the plagiocephaly-torticollis sequence. Four of the five male subjects had inguinal herniation on one or both sides. All subjects had normal renal ultrasonography. The youngest subject died of cardiopulmonary complications and is thought to represent one extreme in the expressivity of the gene in this kindred.

[1]  J. Insley.  Smith's Recognizable Patterns of Human Deformation , 1990 .

[2]  J. Fryns,et al.  Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family , 1989, Clinical genetics.

[3]  I. Temple,et al.  Congenital spinal deformity in a three generation family. , 1988, Journal of medical genetics.

[4]  M. Seashore,et al.  PRENATAL FINDINGS IN A CASE OF SPONDYLOCOSTAL DYSPLASIA TYPE I (JARCHO-LEVIN SYNDROME) , 1988, Obstetrics and gynecology.

[5]  J. Tolmie,et al.  Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. , 1988, The Journal of bone and joint surgery. British volume.

[6]  J. Tolmie,et al.  Second trimester prenatal diagnosis of the Jarcho‐Levin syndrome , 1987, Prenatal diagnosis.

[7]  S. Aymé,et al.  Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. , 1986, American journal of medical genetics.

[8]  L. Dalprà,et al.  [Spondylocostal dysostosis]. , 2020, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

[9]  J. Fryns,et al.  A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy‐Walker cyst , 1985, Clinical genetics.

[10]  L. Holmes,et al.  Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. , 1983, The Journal of pediatrics.

[11]  P. Beighton,et al.  Spondylocostal dysostosis in South African sisters , 1981, Clinical genetics.

[12]  S. Kofman Alfaro,et al.  [Costovertebral dysplasia]. , 1981, Boletin medico del Hospital Infantil de Mexico.

[13]  C. Morton,et al.  Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. , 1981, American journal of medical genetics.

[14]  S. Clarren,et al.  Plagiocephaly and torticollis: etiology, natural history, and helmet treatment. , 1981, The Journal of pediatrics.

[15]  R. Wadia,et al.  Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? , 1978, Journal of medical genetics.

[16]  S. Cavallaro,et al.  Recessive spondylocostal dysostosis: Two new cases , 1978, Clinical genetics.

[17]  P. Beighton.  Inherited disorders of the skeleton , 1978 .

[18]  F. J. de Nóbrega,et al.  Spondylothoracic Dysplasia in Two Siblings , 1977, Clinical pediatrics.

[19]  F. Mulas,et al.  Cerebro‐Facio‐Thoracic Dysplasia: Report of Three Cases , 1975, Developmental medicine and child neurology.

[20]  J. M. García-Castro,et al.  Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature. , 1974, The Journal of pediatrics.

[21]  C. Fabris,et al.  The autosomal recessive form of spondylocostal dysostosis. , 1974, Radiology.

[22]  I. Castroviejo,et al.  Spondylo‐thoracic Dysplasia in Three Sisters , 1973, Developmental medicine and child neurology.

[23]  J. Cantú,et al.  Evidence for autosomal recessive inheritance of costovertebral dysplasia , 1971, Clinical genetics.

[24]  J. Eller,et al.  Bizarre deformities in offspring of user of lysergic acid diethylamide. , 1970, The New England journal of medicine.

[25]  V. McKusick,et al.  Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. , 1968, The American journal of medicine.

[26]  J. Lejeune,et al.  Aberrations chromosomiques et maladies humaines; la polydysspondylle à 45 chromosomes. , 1959 .

[27]  T. Ingalls,et al.  Principles governing the genesis of congenital malformations induced in mice by hypoxia. , 1957, The New England journal of medicine.