La Pediatria medica e chirurgica, 1981-07, Vol.3 (4), p.323
1981
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Details
- Autor(en) / Beteiligte
- Titel
- Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)
- Ist Teil von
- La Pediatria medica e chirurgica, 1981-07, Vol.3 (4), p.323
- Ort / Verlag
- Italy
- Erscheinungsjahr
- 1981
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.
- Sprache
- Italienisch
- Identifikatoren
- ISSN: 0391-5387Titel-ID: cdi_pubmed_primary_7343926
- Format
- –
- Schlagworte
- Blepharoptosis - complications, Child, Face - abnormalities, Hand Deformities, Congenital, Humans, Male, Pedigree, Scrotum - abnormalities, Syndrome