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Sporadic trichodental dysplasia with microcephaly and mental retardation.
Clin Dysmorphol. 1995 Oct; 4(4):334-7.CD

Abstract

Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation.

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Authors+Show Affiliations

Giannotti A
Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.
Digilio MC
No affiliation info available
Albertini G
No affiliation info available
Mingarelli R
No affiliation info available
Dallapiccola B
No affiliation info available

MeSH

Child, PreschoolEctodermal DysplasiaFemaleHairHumansIntellectual DisabilityMicrocephalyMicroscopy, Electron, ScanningSyndromeTooth Abnormalities

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8574424

Citation

Giannotti, A, et al. "Sporadic Trichodental Dysplasia With Microcephaly and Mental Retardation." Clinical Dysmorphology, vol. 4, no. 4, 1995, pp. 334-7.
Giannotti A, Digilio MC, Albertini G, et al. Sporadic trichodental dysplasia with microcephaly and mental retardation. Clin Dysmorphol. 1995;4(4):334-7.
Giannotti, A., Digilio, M. C., Albertini, G., Mingarelli, R., & Dallapiccola, B. (1995). Sporadic trichodental dysplasia with microcephaly and mental retardation. Clinical Dysmorphology, 4(4), 334-7.
Giannotti A, et al. Sporadic Trichodental Dysplasia With Microcephaly and Mental Retardation. Clin Dysmorphol. 1995;4(4):334-7. PubMed PMID: 8574424.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sporadic trichodental dysplasia with microcephaly and mental retardation. AU - Giannotti,A, AU - Digilio,M C, AU - Albertini,G, AU - Mingarelli,R, AU - Dallapiccola,B, PY - 1995/10/1/pubmed PY - 1995/10/1/medline PY - 1995/10/1/entrez SP - 334 EP - 7 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 4 IS - 4 N2 - Trichodental syndrome is a rare autosomal dominant ectodermal dysplasia. Hair and dental anomalies have been found in different combinations in most affected persons in three families. The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior lateral incisors. Ultrastructural hair analysis showed consistent variation in contour of the shaft and reduced to absent cuticular scale. Distinguishing features in this patient were microcephaly and mild mental retardation. SN - 0962-8827 UR - https://wwww.unboundmedicine.com/medline/citation/8574424/Sporadic_trichodental_dysplasia_with_microcephaly_and_mental_retardation_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8574424.ui DB - PRIME DP - Unbound Medicine ER -