Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects
Pakistan Journal of Medical Sciences. 2014; 30 (6): 1428-1431
en Inglés
| IMEMR
| ID: emr-148811
ABSTRACT
Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification of hypoplastic thumb by Blauth and Schneider-Sickert [1981], the phenotypes were concordant with types 3 and 4. In one of the subjects there was contralateral preaxial polydactyly. All cases were sporadic and nonsyndromic and parental consanguinity was witnessed in two individuals. Recurrent appearance of similar phenotypes may suggest genetic etiologies which should be elucidated with the help of high-throughput genetic methods:
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Pulgar
/
Deformidades Congénitas de la Mano
/
Deformidades Congénitas de las Extremidades
/
Consanguinidad
/
Mano
Tipo de estudio:
Informe de Casos
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Pak. J. Med. Sci.
Año:
2014
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