Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus

In 1912, Crouzon described a syndrome that consisted of brachycephaly, shallow orbits, and maxillary hypoplasia [1]. Since then, craniofacial syndromes have been subcategorized into over a hundred syndromes based on the severity of the craniofacial and associated congenital malformations [2]. Crouzon syndrome, along with Apert, Carpenter, Chotzen, and Pfeiffer syndromes, is one of the most common genetic disorders associated with a craniofacial syndrome. Other facial deformities in Crouzon syndrome may include prominent nose, frontal bossing, and ocular proptosis due to shallow orbits with or without hypertelorism, although age-related phenotype modifications have been reported [3].Patients of Crouzon syndrome may occasionally present with hydrocephalus, seizures, and mental retardation. The incidence of hydrocephalus in craniosynostosis ranges from 4% to 26% [4, 5]. Nonetheless, short stature with growth hormone deficiency (GHD) and/or iron deficiency anemia (IDA) have rarely been reported in the literature. Here we report a case of Crouzon syndrome with hydrocephalus, also presenting with severe short stature due to GHD and IDA.An 11 and a half-year-old boy visited our out-patient clinic for frequent dizziness and marked growth retardation. He was a case of Crouzon syndrome which had been suspected since infancy. The positive facial features were brachycephaly, hypoplasia maxilla, severe ocular proptosis (Hertel's exophthalmometry measuring 22-23？mm on both eyes) with hypertelorism, and low-set ears. He had a 3200？gm birth weight and was born to a generally healthy mother via NSD at 40？wks' gestational age. Owing to severe hydrocephalus and cerebellar tonsil herniation (Chiari I malformation) revealed by magnetic resonance imaging (MRI), he had endoscopic third ventriculostomy and shunt at the age of 13？months. Six months later, he received frontal advancement and ventricular shunting because of a progressive increase in ventricular size and rising intracranial pr