A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism
| Autor: | Oliver Quarrell, Christine Hall, Mike G. Harrison, Emma Wakeling, Hermione Race |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
Foot Deformities Congenital Genetic Linkage Genes Recessive Consanguinity Deafness Sensorineural deafness Pathology and Forensic Medicine Fingers Atrophy Humans Medicine Limb development Child Genetics (clinical) Phalangeal duplication Hand deformity Hyperphalangism business.industry Syndrome General Medicine Preaxial brachydactyly Anatomy medicine.disease Optic Atrophy Child Preschool Face Pediatrics Perinatology and Child Health Female business Hand Deformities Congenital |
| Zdroj: | Clinical Dysmorphology. 19:23-27 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e328334557e |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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