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A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.
Am J Med Genet. 1990 May; 36(1):89-93.AJ

Abstract

We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.

Authors+Show Affiliations

Tonoki H
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Kishino T
No affiliation info available
Niikawa N
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChildDwarfismFemaleFingersHumansIntellectual DisabilityMaleMicrocephalyNails, MalformedPedigreeSyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2333912

Citation

Tonoki, H, et al. "A New Syndrome of Dwarfism, Brachydactyly, Nail Dysplasia, and Mental Retardation in Sibs." American Journal of Medical Genetics, vol. 36, no. 1, 1990, pp. 89-93.
Tonoki H, Kishino T, Niikawa N. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Am J Med Genet. 1990;36(1):89-93.
Tonoki, H., Kishino, T., & Niikawa, N. (1990). A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. American Journal of Medical Genetics, 36(1), 89-93.
Tonoki H, Kishino T, Niikawa N. A New Syndrome of Dwarfism, Brachydactyly, Nail Dysplasia, and Mental Retardation in Sibs. Am J Med Genet. 1990;36(1):89-93. PubMed PMID: 2333912.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. AU - Tonoki,H, AU - Kishino,T, AU - Niikawa,N, PY - 1990/5/1/pubmed PY - 1990/5/1/medline PY - 1990/5/1/entrez SP - 89 EP - 93 JF - American journal of medical genetics JO - Am J Med Genet VL - 36 IS - 1 N2 - We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2333912/A_new_syndrome_of_dwarfism_brachydactyly_nail_dysplasia_and_mental_retardation_in_sibs_ DB - PRIME DP - Unbound Medicine ER -