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Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.
Clin Dysmorphol. 1996 Jul; 5(3):223-9.CD

Abstract

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

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Authors+Show Affiliations

Pavone L
Clinica Pediatrica Università di Catania, Italy.
Rizzo R
No affiliation info available
Ruggieri M
No affiliation info available
Sorge G
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentFaceFingersHumansHypertrichosisIntellectual DisabilityMaleNails, MalformedObesitySyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8818451

Citation

Pavone, L, et al. "Hypertrichosis, Coarse Face, Brachydactyly, Obesity and Mental Retardation." Clinical Dysmorphology, vol. 5, no. 3, 1996, pp. 223-9.
Pavone L, Rizzo R, Ruggieri M, et al. Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation. Clin Dysmorphol. 1996;5(3):223-9.
Pavone, L., Rizzo, R., Ruggieri, M., & Sorge, G. (1996). Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation. Clinical Dysmorphology, 5(3), 223-9.
Pavone L, et al. Hypertrichosis, Coarse Face, Brachydactyly, Obesity and Mental Retardation. Clin Dysmorphol. 1996;5(3):223-9. PubMed PMID: 8818451.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation. AU - Pavone,L, AU - Rizzo,R, AU - Ruggieri,M, AU - Sorge,G, PY - 1996/7/1/pubmed PY - 1996/7/1/medline PY - 1996/7/1/entrez SP - 223 EP - 9 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 5 IS - 3 N2 - A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8818451/Hypertrichosis_coarse_face_brachydactyly_obesity_and_mental_retardation_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8818451.ui DB - PRIME DP - Unbound Medicine ER -