Provisionally unique autosomal recessive syndrome due to significant consanguinity.
We report a patient with a syndrome of MR/MCA who was the product of a highly consanguineous family. The patient was the result of a union between a man and his daughter. The daughter was in turn the product of a mating between this same man and his mother. Major findings include: severe psychomotor and mental retardation, microcephaly with cerebral dysgenesis and cerebellar hypoplasia, early hypotonia and late hypertonia, short stature, early swallowing incoordination with aspiration pneumonias, distinctive face with striking hypertelorism, hypospadias, cryptorchidism, overlapping fingers, and rocker-bottom feet. Chromosome and metabolic studies were normal. The severity and uniqueness of his phenotype suggests a new, probably private, autosomal recessive disorder due to homozygosity for one or more loci.
Avegno
J
J
Louisiana State University Health Sciences Center in New Orleans, 1542 Tulane Avenue, New Orleans, LA 70112-2822, USA.
Tilton
A H
AH
Lacassie
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome