Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome
about
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyCutis marmorata telangiectatica congenita: report of 18 cases.Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.Macrocephaly-capillary malformation presenting with fetal arrhythmia.Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.Multifocal arteriovenous malformations and facial nevus without leptomeningeal angioma: a variant form of Sturge-Weber syndrome? A case report and review of the literatures.Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.Diffuse capillary malformation in association with fetal pleural effusion: report of five patients.Capillary malformations: a classification using specific names for specific skin disorders.Approach to the Diagnosis of Overgrowth Syndromes.Strokelike episodes and cutis marmorata telangiectatica congenita.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.Inherited macrocephaly-hamartoma syndromes.Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.The microcephaly-capillary malformation syndromeVascular MalformationsChild with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
P2860
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P2860
Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome
description
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 1997
@uk
name
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@en
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@nl
type
label
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@en
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@nl
prefLabel
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@en
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@nl
P2093
P1476
Macrocephaly with cutis marmor ...... istinctive overgrowth syndrome
@en
P2093
J CLAYTON-SMITH
J STEEN-JOHNSEN
L TRANEBJAERG
R C M HENNEKAM
P304
P356
10.1097/00019605-199710000-00001
P577
1997-10-01T00:00:00Z