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.

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 Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
V. Thadchanamoorthy ◽  
Kavinda Dayasiri ◽  
M. Thirukumar ◽  
N. Thamilvannan ◽  
S. H. Chandraratne
Keyword(s):  
Rare Condition ◽  
The Body ◽  
Sri Lankan ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Underlying Causes ◽  
Cutis Aplasia ◽  
Contracture Formation ◽  
Type V ◽  
Aplasia Cutis

Abstract Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Aplasia Cutis Congenita Complicated by Sagittal Sinus Hemorrhage

PEDIATRICS ◽  
1980 ◽  
Vol 66 (6) ◽  
pp. 948-950 ◽  
Author(s):  
Brian M. Schneider ◽  
Robert A. Berg ◽  
Allen M. Kaplan
Keyword(s):  
Surgical Repair ◽  
Aplasia Cutis Congenita ◽  
Sagittal Sinus ◽  
Scalp Defects ◽  
Aplasia Cutis

An infant with aplasia cutis congenita complicated by sagittal sinus hemorrhage is described. In cases of large defects, plastic surgical repair has been recommended for prevention of hemorrhage and infection. The complication of sagittal. sinus hemorrhage should be considered in patients with large midline scalp defects, especially when associated with absence of the underlying cranium.

Cutis Aplasia: Perioperative Management and Case Report

2012 ◽  
Vol 21 (3) ◽  
pp. 212-215
Author(s):  
Steven M. Levine ◽  
Derek D. Reformat ◽  
Charles H. Thorne
Keyword(s):  
Perioperative Management ◽  
Wound Care ◽  
Surgical Techniques ◽  
Full Thickness ◽  
Aplasia Cutis Congenita ◽  
Rare Congenital Disorder ◽  
Scalp Defect ◽  
Life Threatening ◽  
Cutis Aplasia ◽  
Aplasia Cutis

Aplasia cutis congenita, a rare congenital disorder involving defects of some or all of the layers of the cranium, is associated with potential life-threatening complications. Although treatment involves both nonsurgical and surgical techniques, the importance of perioperative management cannot be overstressed. A multidisciplinary team, including personnel from nursing, neonatology, pediatrics, radiology, neurosurgery, and plastic surgery services, diagnosed aplasia cutis congenita and planned local wound care, surgical correction, and prevention of potentially life-threatening complications in a 1-day-old boy with a 6×5-cm full-thickness scalp defect.

Triploidy: Case Report of a Live-born Male and an Ethical Dilemma

PEDIATRICS ◽  
1984 ◽  
Vol 74 (2) ◽  
pp. 296-299
Author(s):  
ROGER G. FAIX ◽  
MASON BARR ◽  
JOHN R. WATERSON
Keyword(s):  
Mechanical Ventilation ◽  
Case Report ◽  
Weight Gain ◽  
Ethical Issues ◽  
Present Report ◽  
Male Infant ◽  
First Trimester ◽  
Handicapped Children ◽  
Severely Handicapped ◽  
Poor Weight Gain

Triploidy (69 chromosomes) is found in as many as 12% of karyotyped spontaneous first trimester abortuses, but it is rare in live-born infants.1 The longest reported survival of an infant with complete triploidy is seven months.2 Multiple anomalies, poor weight gain, and neurodevelopmental arrest are characteristic of the few reported liveborn infants.2-5 The uniformly dismal outcome of these infants has been considered a contraindication for the use of extraordinary support, eg, mechanical ventilation, once the diagnosis is established. However, ethical issues concerning the treatment of such severely handicapped children are subjects of continuing controversy. The present report describes the course of a male infant with complete triploidy; his survival was artificially prolonged for four months in accordance with parental religious beliefs.

Congenital scalp defects: aplasia cutis congenita

1975 ◽  
Vol 42 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Edward I. Kosnik ◽  
Martin P. Sayers
Keyword(s):  
Primary Closure ◽  
Trisomy 13 ◽  
Normal Children ◽  
Aplasia Cutis Congenita ◽  
Content Type ◽  
Scalp Defects ◽  
Scalp Defect ◽  
Rare Lesion ◽  
Aplasia Cutis ◽  
Fine Print

✓ The authors discuss the rare lesion of congenital scalp defect, both partial and full thickness. The majority occur in children who are otherwise normal, but a few are seen in children who have many concomitant anomalies. A high percentage of the multiple anomaly cases were found to have trisomy 13–15. Etiology of these lesions is not clear, but there seems to be an inherited component. Treatment of otherwise normal children is conservative for the smaller lesions, with excision and primary closure when possible for the larger ones.

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption

2007 ◽  
Vol 16 (1) ◽  
pp. 39-41 ◽  
Author(s):  
Joanna Prothero ◽  
Richard Nicholl ◽  
Judith Wilson ◽  
Emma L. Wakeling
Keyword(s):  
Limb Defects ◽  
Aplasia Cutis Congenita ◽  
Vascular Disruption ◽  
Retinal Folds ◽  
Aplasia Cutis

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
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