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.

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

“…Report of two additional brothers designated CFT as a distinct entity [Philip et al, ]. Since then, clinical reports of nine additional individuals, including one reported by our group has enabled further delineation of the phenotype [Guion‐Almeida et al, ; Rufo‐Campos et al, ; Kanaka‐Gantenbein et al, ; Cilliers et al, ; Pascual‐Castroviejo et al, ; Smigiel et al, ; Cortesi et al, ]. CFT is a multiple congenital anomaly and intellectual disability syndrome, basically involving the cranium, face, and thorax presumed to be inherited as autosomal recessive trait.…”