We report a patient with a unique combination of features, including microcephaly; mental
retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; …

Recently, Chen et al'reported a patient with holoprosencephaly (HPE) and a proximal
interstitial deletion of chromosome 14q. Since classical HPE was also present in two of the …

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft
of lip and palate, and severe mental retardation. The karyotype was normal and the …

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in
three previous cases in whom chromosomes were apparently normal. We report on a 3‐year …

Holoprosencephaly–Polydactyly (HPS) or Pseudotrisomy 13 syndrome are names conferred
to clinically categorize patients whose phenotype is congruent with Trisomy 13 in the context …

We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft
palate/uvula, high‐arched palate and mild mental retardation. Although these findings may …

We present a de novo 1.4 Mb deletion of chromosome 19p13. 11-p13. 12 in a 16 year old
boy with intellectual disability, autistic features, microcephaly, hearing impairment …

METHODS Systematic sequencing of the entire coding region of the SHH, ZIC2, TGIF, and
SIX3 genes has been performed in a series of 210 non-chromosomal HPE probands …

The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and
hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins …

Potocki–Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes
located on the proximal short arm of chromosome 11 (11p11. 2p12). Classic features …