New autosomal recessive faciodigitogenital syndrome
| Autor: | Q. A. Al-Saleh, Sadika A. Al-Awadi, Ahmad S. Teebi, K.K. Naguib |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1988 |
| Předmět: |
Male
Male genitalia Pedigree chart Genes Recessive Biology Genitalia Male Short stature Fingers Genetics medicine Humans Autosomal recessive faciodigitogenital syndrome Abnormalities Multiple Child Genetics (clinical) X-linked recessive inheritance Infant Syndrome Pedigree Aarskog Syndrome Child Preschool Face FACIODIGITOGENITAL SYNDROME Female medicine.symptom Research Article |
| Popis: | Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed. |
| Databáze: | OpenAIRE |
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