Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect.

3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother-daughter pair, have previously been reported without apparent clinical consequence. We present a second mother-daughter dyad with a terminal 3p25.

Omphalocele and gastroschisis: an 18-year review study.

Purpose: Using data from a single University Genetics Division practice, the authors sought to determine if gastroschisis is increasing in occurrence compared to omphalocele. Associated abnormalities were also examined. In addition, prenatal exposure to teratogens and other parameters were compared.

Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome.

We describe an infant with multiple congenital anomalies including cleft palate and micrognathia, Möbius sequence, developmental delay, myopathy, hydronephrosis, and bilateral clubfeet. These features are consistent with Carey-Fineman-Ziter (CFZ) syndrome (MIM 254940), which has been previously reported in six children (including two sibling pairs). Cranial magnetic resonance imaging (MRI) revealed an unusually small pons, a finding not previously described in CFZ syndrome.