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- Title
Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia.
- Authors
Kanaka-Gantenbein, Christina; Fryssira, Helen; Kakavakis, Konstantinos; Bouzas, Evrydiki; Thomaidis, Loretta; Chrousos, George; Mastorakos, George
- Abstract
We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present. We present the results of 2 years GH treatment of this first GH deficient patient with cerebrofaciothoracic syndrome and compare the results to those observed in other genetic syndromes with GH deficiency.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2006, Vol 19, Issue 9, p1179
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2006.19.9.1179