Autosomal recessive syndrome due to amazing consanguinity

Abstract

We report on 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 the man and his mother. Major findings include: severe psychomotor and mental retardation, microcephaly with cerebral dysgenesis and cerebellar hypoplasia, delayed visual development, seizures, early hypotonia and late hypertonia; short stature and failure to thrive, early swallowing incoordination with aspiration pneumonias; dysmorphic face with striking hypertelorism, upslanting palpebral fissures and dysplastic, asymmetric, low-set ears; wide set nipples, sacral dimple, right inguinal hernia, hypospadias, cryptorchidism, overlapping fingers, and rocker-bottom feet. At onset of puberty, he developed severe scoliosis with secondary pulmonary restriction. He died at age 14 secondary to post-operative sepsis. Chromosomal and metabolic studies were normal. Although this patient presents some features of other syndromes (such as the Opitz-GBBB syndrome), the severity and peculiarity of his phenotype suggests a new, probably private, autosomal recessive disorder due to homozygosity for one or more loci.