Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.
Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.
Method: A boy was born from third complicated pregnancy to a 29-year-old mother with sarcoidosis, at 37 weeks of gestation by Cesarean section due to severe intrauterine growth retardation and oligohydramnion. His birthweight was 1750 g (SDS −2.98), length 38 cm (SDS −5.89) and head circumference 32 cm (SDS −1.50). He had retarded cardiopulmonary adaptation with perinatal asphyxia, RDS and cardiac murmur diagnosed as PDA and ASD II, umbilical hernia and dilated lateral ventricles. The baby was ventilated and given anti-failure treatment, no surgical cardiac intervention was performed. At the age of 3 months bilateral ocular coloboma was noted. He showed hypotonia and developmental delay, with frequent episodes of rectal bleeding due to constipation and anal fissures. At the age of 3 years he was admitted because of symmetrical short statute height 88.3 cm (SDS −2.84), weight 9.9 kg (SDS −4.13) and head circumference 47.9 cm (SDS −1.52).
Results: On physical examination abnormal features were noted low-set ears, retromicrognathia, down-slanting palpebral fissures, broad forehead, clinodactyly, muscular waste. Laboratory investigations showed fasting hypoglycemia, dyslipidemia, low IGF-1; GH deficiency was confirmed with peak GH levels <5 ng/ml on two stimulation tests. Bone age was slightly delayed with hypoplasia of the 5th distal phalanges. Brain imaging showed Dandy-Walker variant with cerebellar vermis hypoplasia, slightly dilated 4th ventricle and moderate communicating hydrocephalus. Treatment with rhGH was initiated.
Conclusion: GH deficiency should be considered as a possible cause of short stature seen in this condition.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology