Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly
158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a …

Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic
variants in KMT2A and characterized by intellectual disability and hypertrichosis. We …

We report three cases of Hurler's disease in which glaucoma developed in early childhood.
We draw attention to the fact that glaucoma may be a commonly unrecognised early …

Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth,
intellectual disability, limb reduction defects, and characteristic facial features. Germline …

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare,
neonatally lethal developmental disorder of the lung with defining histologic abnormalities …

Background Smith–Lemli–Opitz syndrome (SLOS) is a rare hereditary disorder of cholesterol
metabolism. We examine the feasibility of identifying SLOS as a part of a routine prenatal …

We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with
a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent‐1 segregation of at(…

Interstitial deletions of the short arm of chromosome 6 are rare and have been associated
with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We …

We report the results of a near total myeloablation in preparation for bone marrow transplantation
in a boy with minimal symptoms of X-linked adrenoleukodystrophy. Severe cerebral X-…