Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial dysostosis syndrome?
Am J Med Genet
; 101(3): 279-82, 2001 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-11424146
ABSTRACT
We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, vertebral anomalies, bilateral cutaneous syndactyly of fingers and toes, unilateral cryptorchidism and multiple café-au-lait spots. The mother of the propositus has multiple café-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar case. We think that this patient represents a new acrocraniofacial dysostosis syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Orelha
/
Microcefalia
/
Micrognatismo
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article