Defective maturation of granulocytes, retinal cysts and multiple skeletal malformations in a mentally retarded girl.
A case of congenital malformations of the extremities (deformed thumbs and great toes, dislocation of the hips, limitation of motion of the joints of the lower extremities), bilateral microphthalmia, bilateral retinal cysts, cerebral atrophy epilepsy, severe physical and mental retardation and monolobed neutrophil granulocytes is reported. A similar clinical picture has not previously been described. We assume that the patient suffers from a sublethal genetic disorder.
D000015:Abnormalities, Multiple / Q000235:genetics; D001284:Atrophy; D001842:Bone and Bones / Q000002:abnormalities*; D001927:Brain Diseases / Q000235:genetics; D002675:Child, Preschool; D003560:Cysts / Q000235:genetics; D004827:Epilepsy / Q000097:blood; D005260:Female; D006098:Granulocytes; D006801:Humans; D008607:Intellectual Disability / Q000097:blood; D007958:Leukocyte Count; D007962:Leukocytes; D008850:Microphthalmos / Q000235:genetics; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome