Biomaterial Database

A patient with facial abnormality, imperforate anus, tetrapolyhypodactyly and meningocele: a variable manifestation of the polyoligodactyly/imperforate anus/vertebral anomalies syndrome. 1994

R N Sener

Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.

We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008588	Meningocele	A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.	Herniation of Meninges,Meningeal Herniation,Acquired Meningocele,Meningocele, Traumatic,Rudimentary Meningocele,Acquired Meningoceles,Herniation, Meningeal,Herniations, Meningeal,Meningeal Herniations,Meninges Herniation,Meninges Herniations,Meningocele, Acquired,Meningocele, Rudimentary,Meningoceles,Meningoceles, Acquired,Meningoceles, Rudimentary,Meningoceles, Traumatic,Rudimentary Meningoceles,Traumatic Meningocele,Traumatic Meningoceles
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005385	Fingers	Four or five slender jointed digits in humans and primates, attached to each HAND.	Finger
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D001006	Anus, Imperforate	A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.	Anal Atresia,Atresia, Anal,Anal Atresias,Atresias, Anal,Imperforate Anus
D014034	Toes	Any one of five terminal digits of the vertebrate FOOT.	Toe
D017689	Polydactyly	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms