The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

2009 ◽  
Vol 149A (8) ◽  
pp. 1860-1881 ◽  
Author(s):  
Katie M.G. Snape ◽  
Deborah Ruddy ◽  
Martin Zenker ◽  
Wim Wuyts ◽  
Margo Whiteford ◽  
...  
Keyword(s):  
Limb Defects ◽  
Aplasia Cutis Congenita ◽  
Clinical Phenotypes ◽  
Aplasia Cutis

Epileptic Encephalopathy in Adams–Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

2018 ◽  
Vol 49 (03) ◽  
pp. 217-221 ◽  
Author(s):  
Livia Pisciotta ◽  
Valeria Capra ◽  
Andrea Accogli ◽  
Thea Giacomini ◽  
Giulia Prato ◽  
...  
Keyword(s):  
Epileptiform Activity ◽  
Epileptic Encephalopathy ◽  
Compound Heterozygosity ◽  
Limb Defects ◽  
Aplasia Cutis Congenita ◽  
Scalp Defects ◽  
Brain Malformations ◽  
Limb Malformations ◽  
Electroencephalogram Eeg ◽  
Aplasia Cutis

AbstractAdams–Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations of variable severity. When neurological findings are present, patients are reported as AOS variants. We describe a child with compound heterozygosity of the DOCK6 gene, aplasia cutis, terminal transverse limb defects, cardiovascular impairment, intellectual disability, and brain malformations with intracranial calcifications. He suffers from a severe refractory epileptic encephalopathy characterized by polymorphic seizures with prolonged periods of electroencephalogram (EEG), continuous epileptiform activity related to clinical inactivity, and closure of eyes with an “ON-OFF” behavior.

scholarly journals Adams-Oliver syndrome: a case with full expression

2016 ◽  
Vol 8 (2) ◽  
Author(s):  
Amir Dehdashtian ◽  
Masoud Dehdashtian
Keyword(s):  
Weight Gain ◽  
Male Infant ◽  
Multiple Organ ◽  
Limb Defects ◽  
Aplasia Cutis Congenita ◽  
Scalp Defects ◽  
Major Organ ◽  
Cutis Aplasia ◽  
Poor Weight Gain ◽  
Aplasia Cutis

Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity. It is believed that Adams-Oliver syndrome without major organ abnormalities does not necessarily alter the normal lifespan. We present a case without detectable major organ abnormality contrary to life but with poor weight gain. A male infant with scalp and skin cutis aplasia, generalized cutis aplasia, dilated veins over scalp and trunk, hypoplastic toes and nails of feet, glaucoma, poor feeding and poor weight gain. This report shows a case of AOS without major multiple organ abnormalities but with poor feeding and abnormal weight gain that may be alter the normal lifespan.

A Case of Aplasia Cutis Congenita Born with a Papyraceous Fetus

2005 ◽  
Vol 67 (3) ◽  
pp. 215-217
Author(s):  
Kenji IWATA ◽  
Shigeru OKADA
Keyword(s):  
Aplasia Cutis Congenita ◽  
Aplasia Cutis

Aplasia Cutis Congenita

2001 ◽  
Vol 63 (5) ◽  
pp. 489-490
Author(s):  
Aki FUJISAKI ◽  
Wataru RIKIHISA ◽  
Hiromaro KIRYU ◽  
Juichiro NAKAYAMA ◽  
Tetsuya KOGA
Keyword(s):  
Aplasia Cutis Congenita ◽  
Aplasia Cutis
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