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At a glance

It is a severe polymalformative syndrome involving the nervous system (sacral meningocele), heart (conotruncal heart defect), unilateral renal agenesis, significant craniofacial deformities, low-set and posteriorly angulated ears, retrognathia, and short neck with low posterior hairline.


Sacral Meningocele and Conotruncal Heart Defects Syndrome.


This medical condition was originally described by Boris Kousseff in 1984 who reported in three siblings a triad of symptoms consisting of conotruncal heart defects, neural tube defects, and dysmorphic features.


Only four reported cases in the literature. However, Toriello et al suggested in 1985 that the incidence may be underdiagnosed and may represent as many as one in 100 cases of spina bifida cystica.

Genetic inheritance

Autosomal recessive inheritance profile is suspected. It has been suggested on the basis of the clinical findings, the family history, and recent knowledge acquired from other disorders associated with open neural tube defects, as seen in the VCFS/DiGeorge Anomaly, a FISH analysis on the chromosome 22q showed a deletion. Molecular analysis on autopsy material confirmed the deletion in the Proband’s deceased brother. Neural tube defects associated with congenital heart defects or cleft palate seem to be caused by a 22q deletions..




Significant cardiac and neural tube defects may be diagnosed in utero by ultrasonography. Elevated amniotic α-fetoprotein levels are suggestive of open neural tube defects. Postpartum diagnosis is made based on phenotypical findings, including cardiac imaging with echocardiogram and/or cardiac catheterization.

Clinical aspects

Craniofacial features common to all cases included low-set, posteriorly rotated ears, retrognathia, depressed nasal tip, and short neck with low posterior hairline. Myelomeningocele (MMC) with hydrocephalus was present in at least three of the four cases. Cardiac abnormalities have been described as truncus arteriosus in two cases and transposition of the great arteries in one case. The fourth patient had no cardiac abnormalities. Left renal and ureter agenesis was present in one case. The fingers may be long, and the space between the first and second toes may be large. The clinical presentation can be easily confused with the Velocardiofacial Syndrome (VCFS) or DiGeorge Syndrome. The proband of a male affected with spina bifida, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and typical craniofacial features including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia was reported. Also, the family history of a brother who died at 2 weeks of age and affected with MMC, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with MMC, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid ...

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