Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship.

Spondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.

[1]  Silverman Wa.  Non-treatment of defective newborn babies. , 1980, Lancet.

[2]  J. Pietrzyk,et al.  Immunogenetic Bases of Congenital Malformations: Association of HLA-B27 with Spina Bifida , 1979, Pediatric Research.

[3]  D. Bergsma.  Birth Defects Compendium , 1979, Palgrave Macmillan UK.

[4]  L. Pinsky,et al.  Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. , 1978, The Journal of pediatrics.

[5]  L. Reiner,et al.  Spondylothoracic dysostosis: report of two cases and review of the literature. , 1978, Archives of pathology & laboratory medicine.

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

[7]  W. Smith,et al.  The Vater association. , 1974, American journal of diseases of children.

[8]  J. Opitz,et al.  The syndromology of anorectal malformation (atresia, stenosis, ectopia). , 1978, American journal of medical genetics.

[9]  D. Rimoin.  International nomenclature of constitutional diseases of bone. Revision--May, 1977. , 1978, The Journal of pediatrics.

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

[11]  U. Francke,et al.  Congenital anomalies including the VATER association in a patient with del(6)q deletion. , 1977, The Journal of pediatrics.

[12]  D. Greenberg,et al.  THE RADIAL DYSPLASIA/IMPERFORATE ANUS/VERTEBRAL ANOMALIES SYNDROME (THE VATER ASSOCIATION): DEVELOPMENTAL ASPECTS AND EYE FINDINGS , 1977, Acta paediatrica Scandinavica.

[13]  H. Kaye,et al.  Vater syndrome: hypothesis and report of two further cases. , 1977, Teratology.

[14]  M. Grazioli,et al.  [The syndrome of vertebro-costal abnormalities Jarcho-Levin. Report of a case and review of literature]. , 1976, Minerva Pediatrica.

[15]  M. Feingold,et al.  Spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome. , 1976, American journal of diseases of children.

[16]  Y. Naveh,et al.  Familial imperforate anus. , 1976, American journal of diseases of children.

[17]  E. Dahl,et al.  THE VATER ASSOCIATION: MALFORMATIONS OF THE MALE EXTERNAL GENITALIA , 1976, Acta paediatrica Scandinavica.

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

[19]  J. Barry,et al.  The Vater Association: One End of a Spectrum of Anomalies , 1974 .

[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]  S. Temtamy,et al.  Extending the scope of the VATER association: definition of the VATER syndrome. , 1974, The Journal of pediatrics.

[23]  L. Cavalli-Sforza,et al.  The genetics of human populations. , 1972, Scientific American.

[24]  David W. Smith,et al.  The VATER association , 1973 .

[25]  Richards Dh.  Letter: Depression after hysterectomy. , 1973 .

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

[27]  R. Turner,et al.  Arterial-disease research. , 1972, Lancet.

[28]  P. L. Townes,et al.  Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. , 1972, The Journal of pediatrics.

[29]  S. Balcı,et al.  Imperforate anus (polydactyly) vertebral anomalies syndrome: a hereditary trait? , 1971, The Journal of pediatrics.

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

[31]  S. Balcı,et al.  A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE‐ANUS ASSOCIATED WITH POLY‐OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIES , 1971, Acta paediatrica Scandinavica.

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

[33]  J. Lintermans,et al.  HYPOTHYROIDISM AND VERTEBRAL ANOMALIES , 1970 .

[34]  J. Moseley,et al.  Spondylothoracic dysplasia--a syndrome of congenital anomalies. , 1969, The American journal of roentgenology, radium therapy, and nuclear medicine.

[35]  M. Millard.  The polydactyly--imperforate-anus--vertebral-anomalies syndrome. , 1969, Lancet.

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

[37]  W. Tünte.  A new polydactyly-imperforate-anus-vertebral-anomalies syndrome? , 1968, Lancet.

[38]  W. Fuhrmann.  A new polydactyly/imperforate-anus/vertebral-anomalies syndrome. , 1968, Lancet.

[39]  P. Gerald,et al.  A new polydactyly/imperforate-anus/vertebral-anomalies syndrome? , 1968, Lancet.

[40]  P. Quie,et al.  Chronic mucocutaneous candidiasis, deficiency of delayed hypersensitivity, and selective local antibody defect. , 1967, Lancet.

[41]  A. D. Merritt,et al.  A syndrome of bizarre vertebral anomalies. , 1966, The Journal of pediatrics.

[42]  E. Knoche,et al.  Analysis of intrauterine malformations of the vertebral column induced by oxygen deficiency. , 1959, Canadian Medical Association journal.

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