Constriction rings syndrome

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.

Acrania

Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.

Total: 5

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PMID (PMCID)
18442303	MALE
	Cranial vault defects: the description of three cases that illustrate a spectrum of anomalies.
	Evans C, Marton T, Rutter S, Anumba DO, Whitby EH, Cohen MC. Pediatr Dev Pathol. 2009;12(2):96-102.
	All 3 cases were male, and the cranial vault defects corresponded to exencephaly with acrania/acalvaria caused by amniotic band syndrome, acalvaria, and acrania presenting in a chorangiopagus parasiticus twin.
18442303	MALE
	Cranial vault defects: the description of three cases that illustrate a spectrum of anomalies.
	Evans C, Marton T, Rutter S, Anumba DO, Whitby EH, Cohen MC. Pediatr Dev Pathol. 2009;12(2):96-102.
	All 3 cases were male, and the cranial vault defects corresponded to exencephaly with acrania/acalvaria caused by amniotic band syndrome, acalvaria, and acrania presenting in a chorangiopagus parasiticus twin.
15124194	MIXED_SAMPLE	Infant, Newborn
	Prenatal sonographic diagnosis of acrania associated with amniotic bands.
	Chen CP, Chang TY, Lin YH, Wang W. J Clin Ultrasound. 2004;32(5):256-60.
	We describe the prenatal sonographic findings in 2 cases of amniotic band sequence-related acrania.
14607048	MIXED_SAMPLE	Infant, Newborn
	Prenatal diagnosis of acrania associated with amniotic band syndrome.
	Cincore V, Ninios AP, Pavlik J, Hsu CD. Obstet Gynecol. 2003;102(5 Pt 2):1176-8.
	Literature reports association of amniotic band syndrome and acrania postnatally, but not diagnosed prenatally by ultrasound.
1472352	MIXED_SAMPLE	Infant, Newborn
	A counseling dilemma involving anencephaly, acrania and amniotic bands.
	Harrington BJ, Horger EO, Edwards JG. Genet Couns. 1992;3(4):183-6.
	It is often difficult to distinguish between anencephaly, acrania, and amniotic band sequence prenatally, but postnatal differentiation is imperative for accurate risk assessment in genetic counseling.