title: Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia.
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.
authors.affiliation: First Department of Pediatrics, University of Athens, Agia Sophia Children's Hospital, Thivon & Livadias, Greece. ganten@hol.gr
authors.forename: Christina
authors.initials: C
authors.lastname: Kanaka-Gantenbein
authors.forename: Helen
authors.initials: H
authors.lastname: Fryssira
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kakavakis
authors.forename: Evrydiki
authors.initials: E
authors.lastname: Bouzas
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.forename: George
authors.initials: G
authors.lastname: Chrousos
authors.forename: George
authors.initials: G
authors.lastname: Mastorakos
mesh_terms: D001835:Body Weight / Q000502:physiology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000503:physiopathology; D013006:Growth Hormone / Q000627:therapeutic use*; D006257:Head / Q000002:abnormalities*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008831:Microcephaly / Q000150:complications; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014792:Visual Acuity
chemical_list: D019382:Human Growth Hormone; D013006:Growth Hormone