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Ruvalcaba syndrome: autosomal dominant inheritance.
Am J Med Genet. 1984 Dec; 19(4):741-53.AJ

Abstract

A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6517098

Citation

Sugio, Y, and T Kajii. "Ruvalcaba Syndrome: Autosomal Dominant Inheritance." American Journal of Medical Genetics, vol. 19, no. 4, 1984, pp. 741-53.
Sugio Y, Kajii T. Ruvalcaba syndrome: autosomal dominant inheritance. Am J Med Genet. 1984;19(4):741-53.
Sugio, Y., & Kajii, T. (1984). Ruvalcaba syndrome: autosomal dominant inheritance. American Journal of Medical Genetics, 19(4), 741-53.
Sugio Y, Kajii T. Ruvalcaba Syndrome: Autosomal Dominant Inheritance. Am J Med Genet. 1984;19(4):741-53. PubMed PMID: 6517098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ruvalcaba syndrome: autosomal dominant inheritance. AU - Sugio,Y, AU - Kajii,T, PY - 1984/12/1/pubmed PY - 1984/12/1/medline PY - 1984/12/1/entrez SP - 741 EP - 53 JF - American journal of medical genetics JO - Am J Med Genet VL - 19 IS - 4 N2 - A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone-shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3-year-old boy, and his mother were typically affected, while his 8-month-old sister, the 55-year-old maternal grandfather, and his 46-year-old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male-to-male transmission. This effectively ruled out X-linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6517098/Ruvalcaba_syndrome:_autosomal_dominant_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=19&issue=4&spage=741 DB - PRIME DP - Unbound Medicine ER -