Abstract |
A 12 month-old female is described, with clinical features of AEC syndrome. This case is a novo mutation. Clinical diagnosis at an early age is emphasised to get a better management and genetic counseling. Also we review the literature.
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Authors | R Martínez y Martínez, M L Ornelas-Arana, G Pérez-García |
Journal | Boletin medico del Hospital Infantil de Mexico
(Bol Med Hosp Infant Mex)
Vol. 46
Issue 5
Pg. 349-51
(May 1989)
ISSN: 0539-6115 [Print] Mexico |
Vernacular Title | Síndrome AEC: anquilobléfaron, defecto ectodérmico, labio y paladarhendido (síndrome Hay-Wells). |
PMID | 2757778
(Publication Type: Case Reports, English Abstract, Journal Article)
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Topics |
- Cleft Lip
(genetics)
- Cleft Palate
(genetics)
- Ectodermal Dysplasia
(genetics)
- Eyelids
(abnormalities)
- Female
- Humans
- Infant, Newborn
- Phenotype
- Syndrome
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