HUM-MOLGEN DIAGnostics/Clinical Research

December, 21 1998
3C syndrome

We have a patient who has tentatively been diagnosed with 3C syndrome, but who displays some puzzling features which have not previously been described.  We wondered if anyone has had any similar experience. The patient is a boy now aged 5 years.  He was born at 35 weeks gestation with the pregnancy being complicated by polyhydramnios.  His birth weight was 3300 gm.  He had a large head (38.5 cm).  He was hypotonic, with bilateral clubfeet, a large cleft palate and a small omphalocele.  There was mild penile chordee and hypospadias. There is a large perimembranous VSD with mild pulmonary hypertension.  A gastrostomy was required because of feeding difficulties.The childs head continued to grow, the lateral ventricles were mildly increased in size.  A VP shunt was placed for suspected hydrocephalus at age 4 months.  Securing and airway  during anesthetic proved to be very difficult and precarious due to the small size of the larynx and tracheomalacia. Currently the childs weight is above the 10th percentile with the height below the 5th percentile. The childs head circumference has risen from +2SD to + 4SD (59.5cm) .  There is no evidence of hydrocephalus, but polymicrogyria is present.  There is also a retrocerebellar subarachnoid cyst.  A recent opthalmic examination revealed significant hyperopia and somewhat tortuous retinal vessels. The child walks independently and has some speech delays. The following
investigations are normal:  chromosomes, peroxisomal function, CPK,  TORCH, ISH for 1q44, 22q11.2 and 17 (Miller-Dieker) deletions, LFT, plasma lactate, urine organic acids and skeletal survey. Initially Walker-Warburg
syndrome or Fukyama CMD were suggested, but the consensus opinion is 3C syndrome. One concern at present is the increase in the growth of the childs head with signs of increased intercranial pressure, which does not appear to be a feature of 3C.  Does anyone have any experience that they would like to share with us?

Associate professor Clinical Genetics
Department of Medical Genetics
University of Alberta
Edmonton, Alberta,T6G 2B7, Canada
Tel 403 492 4077 Fax 403 492 6845