Intrafamilial variability in Simpson-Golabi-Behmel syndrome with bilateral posterior ear lobule creases

We report a family having two male sibs with Simpson-Golabi-Behmel syndrome [SGBS]. Both have many typical features of the syndrome. These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart. The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases. The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality. The mother looks broad, stocky, and tall

Oral-facial-digital syndrome type II: transitional type between mohr and varadi

We report a 2 months old boy, the first in order of birth of non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II [OFDS II] including cleft lip, high arched palate, retromicrognathia, preaxial polysyndactyly of hands and feet, duplication of thumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: expanding the clinical spectrum

Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause-Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported before

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachriodactly of both fingers and toes, flexion of thumbs at metacarpoph alengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bron chopneumonia and gastroenteritis