In 1998, Hisama et al. described three brothers born following pregnancies complicated by
oligohydramnios in the second or third trimester. Post-natal renal functions were compromised, and post-mortem studies showed kidney tissue abnormalities.
Resuscitation and support were required, and they survived 25 hr to 12 days. All boys had a similar craniofacial appearance with infraorbital creases, low set dysplastic ears, as well as
athelia, and broad digits with small nails. Variably present features were
choanal atresia, preauricular tags and pits, branchial clefts,
ventricular septal defect, type IIB interrupted aortic arch, pulmonary lobation anomaly, absent gallbladder, absent thymus, absent parathyroid gland, accessory spleen, and
imperforate anus. Their mother, maternal grandmother, and maternal first cousin had neck
cysts removed as children. We describe a female infant born following a pregnancy where
oligohydramnios developed between 27 and 33 weeks gestation. Renal function was initially impaired, but improved over the first weeks of life. There was however a persistent renal wasting of
magnesium. Her craniofacial appearance with infraorbital creases and low set dysplastic ears was similar to the brothers' described by Hisama et al. [1998; Am J Med Genet 80:335-342]. She had
choanal atresia,
athelia, a preauricular pit, gingival
cysts, broad digits with small nails, right aortic arch with a
vascular ring,
hypothyroidism, impaired
glucose homeostasis,
hypoadrenalism, neurological impairment, and brain calcifications on CT. She died after 13 weeks of
intensive care. Her mother as a child and maternal grandfather as an adult had neck
cysts removed. The similarities between the cases suggest a common syndrome.