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A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.
Clin Dysmorphol. 2010 Jan; 19(1):23-7.CD

Abstract

We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here. These included sensorineural deafness, optic atrophy, mild facial dysmorphism, orodental anomalies and developmental delay. Autosomal recessive inheritance was previously suggested as the patient had a similarly affected brother and his parents were consanguineous. These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies.

Authors+Show Affiliations

North West London Regional Genetics Centre (Kennedy-Galton Centre), North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19952732

Citation

Race, Hermione, et al. "A Distinct Autosomal Recessive Disorder of Limb Development With Preaxial Brachydactyly, Phalangeal Duplication, Symphalangism and Hyperphalangism." Clinical Dysmorphology, vol. 19, no. 1, 2010, pp. 23-7.
Race H, Hall CM, Harrison MG, et al. A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. Clin Dysmorphol. 2010;19(1):23-7.
Race, H., Hall, C. M., Harrison, M. G., Quarrell, O. W., & Wakeling, E. L. (2010). A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. Clinical Dysmorphology, 19(1), 23-7. https://doi.org/10.1097/MCD.0b013e328334557e
Race H, et al. A Distinct Autosomal Recessive Disorder of Limb Development With Preaxial Brachydactyly, Phalangeal Duplication, Symphalangism and Hyperphalangism. Clin Dysmorphol. 2010;19(1):23-7. PubMed PMID: 19952732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. AU - Race,Hermione, AU - Hall,Christine M, AU - Harrison,Mike G, AU - Quarrell,Oliver W, AU - Wakeling,Emma L, PY - 2009/12/3/entrez PY - 2009/12/3/pubmed PY - 2010/2/23/medline SP - 23 EP - 7 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 19 IS - 1 N2 - We describe four children from two consanguineous families with distinctive hand and foot anomalies including preaxial brachydactyly, together with phalangeal duplication, symphalangism and hyperphalangism of fingers I-III. These anomalies are remarkably similar to those described in a previous case report. Additional features were noted both in this case and, to variable degrees, in the four children reported here. These included sensorineural deafness, optic atrophy, mild facial dysmorphism, orodental anomalies and developmental delay. Autosomal recessive inheritance was previously suggested as the patient had a similarly affected brother and his parents were consanguineous. These four cases provide additional evidence for a novel, autosomal recessive disorder involving limb and other associated anomalies. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/19952732/A_distinct_autosomal_recessive_disorder_of_limb_development_with_preaxial_brachydactyly_phalangeal_duplication_symphalangism_and_hyperphalangism_ L2 - https://doi.org/10.1097/MCD.0b013e328334557e DB - PRIME DP - Unbound Medicine ER -