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Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.
Am J Med Genet. 1990 Sep; 37(1):65-70.AJ

Abstract

A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camptodactyly of fingers and "hammer toes," severe mental retardation, and hypopituitarism. The girl is now 6 1/2 years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests autosomal recessive inheritance.

Authors+Show Affiliations

Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2240046

Citation

Chitayat, D, et al. "Syndrome of Mental Retardation, Facial Anomalies, Hypopituitarism, and Distal Arthrogryposis in Sibs." American Journal of Medical Genetics, vol. 37, no. 1, 1990, pp. 65-70.
Chitayat D, Hall JG, Couch RM, et al. Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. Am J Med Genet. 1990;37(1):65-70.
Chitayat, D., Hall, J. G., Couch, R. M., Phang, M. S., & Baldwin, V. J. (1990). Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. American Journal of Medical Genetics, 37(1), 65-70.
Chitayat D, et al. Syndrome of Mental Retardation, Facial Anomalies, Hypopituitarism, and Distal Arthrogryposis in Sibs. Am J Med Genet. 1990;37(1):65-70. PubMed PMID: 2240046.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. AU - Chitayat,D, AU - Hall,J G, AU - Couch,R M, AU - Phang,M S, AU - Baldwin,V J, PY - 1990/9/1/pubmed PY - 1990/9/1/medline PY - 1990/9/1/entrez SP - 65 EP - 70 JF - American journal of medical genetics JO - Am J Med Genet VL - 37 IS - 1 N2 - A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camptodactyly of fingers and "hammer toes," severe mental retardation, and hypopituitarism. The girl is now 6 1/2 years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2240046/Syndrome_of_mental_retardation_facial_anomalies_hypopituitarism_and_distal_arthrogryposis_in_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=1&spage=65 DB - PRIME DP - Unbound Medicine ER -