Abstract |
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo-pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo-pituitary insufficiency.
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Authors | Nihal Hatipoğlu, Selim Kurtoğlu, Derya Büyükayhan, Mustafa Akçakuş |
Journal | Journal of clinical research in pediatric endocrinology
(J Clin Res Pediatr Endocrinol)
Vol. 1
Issue 5
Pg. 252-5
( 2009)
ISSN: 1308-5735 [Electronic] Turkey |
PMID | 21274304
(Publication Type: Case Reports, Journal Article)
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Topics |
- Cleft Lip
(complications, diagnosis)
- Cleft Palate
(complications, diagnosis)
- Ectodermal Dysplasia
(complications, diagnosis)
- Humans
- Hypogonadism
(complications)
- Hypopituitarism
(complications)
- Infant, Newborn
- Male
- Phenotype
- Syndrome
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