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Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.
Am J Med Genet. 1988 Dec; 31(4):741-51.AJ

Abstract

We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.

Authors+Show Affiliations

Department of Pediatrics, University of Manitoba, Winnipeg, Canada.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3239563

Citation

Chudley, A E., et al. "Mental Retardation, Distinct Facial Changes, Short Stature, Obesity, and Hypogonadism: a New X-linked Mental Retardation Syndrome." American Journal of Medical Genetics, vol. 31, no. 4, 1988, pp. 741-51.
Chudley AE, Lowry RB, Hoar DI. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. Am J Med Genet. 1988;31(4):741-51.
Chudley, A. E., Lowry, R. B., & Hoar, D. I. (1988). Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. American Journal of Medical Genetics, 31(4), 741-51.
Chudley AE, Lowry RB, Hoar DI. Mental Retardation, Distinct Facial Changes, Short Stature, Obesity, and Hypogonadism: a New X-linked Mental Retardation Syndrome. Am J Med Genet. 1988;31(4):741-51. PubMed PMID: 3239563.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. AU - Chudley,A E, AU - Lowry,R B, AU - Hoar,D I, PY - 1988/12/1/pubmed PY - 1988/12/1/medline PY - 1988/12/1/entrez SP - 741 EP - 51 JF - American journal of medical genetics JO - Am J Med Genet VL - 31 IS - 4 N2 - We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3239563/Mental_retardation_distinct_facial_changes_short_stature_obesity_and_hypogonadism:_a_new_X_linked_mental_retardation_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=31&issue=4&spage=741 DB - PRIME DP - Unbound Medicine ER -