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Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Benign hereditary chorea.
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Clinical nosologic and genetic aspects of Joubert and related syndromes.
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Autosomal dominant torsion dystonia with onset in infancy.
A developmental and genetic classification for malformations of cortical development.
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
MICRO syndrome: an entity distinct from COFS syndrome.
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.