Table 1.

Summary of Clinical Characteristics

	Proband 1	Proband 2
Age at last exam	16 months	6.5 years
Gender	male	female
Prenatal history	IUGR	increased risk for Down syndrome on prenatal quad screen; amniocentesis not done
Birth history	Cesarean section at 35 weeks for IUGR	term vaginal delivery
Brain MRI	semilobar holoprosencephaly	semilobar holoprosencephaly
Craniofacial exam	microcephaly, epicanthal folds, long philtrum	microcephaly, epicanthal folds, long philtrum
Ears/hearing	bilateral microtia, bilateral conductive and sensorineural hearing loss with right ear worse than left, CT scan showed ossicle anomalies	severe bilateral sensorineural hearing loss
Seizure history	isolated seizure associated with fentanyl administration, normal EEG	none
Diabetes insipidus	present, treated with desmopressin	none
Neurologic history	global developmental delay, low muscle tone, non-ambulatory	global developmental delay, muscle spasticity, non-ambulatory
Other anomalies	pancreatic insufficiency: neonatal diabetes mellitus requiring insulin therapy and pancreatic exocrine deficiency treated with enzyme therapy	none

Abbreviations: IUGR, intrauterine growth restriction; MRI, magnetic resonance imaging; CT, computed tomography; EEG, electroencephalogram.