More predominantly, 94% of patients have some musculoskeletal abnormalities including limb discrepancies, scoliosis, and abnormalities of the digits such as syndactyly, polydactyly, and
bifid thumb. Abnormalities involving other systems have been reported including head and face anomalies, cardiac anomalies like ventricular or atrial septal defects, and genital and reproductive organ anomalies including precocious puberty, cryptorchidism, micropenis, hypospadias, urethral duplications, and nephritis, among others.
He was born to uneventfull pregnancy at term.His motor milestones were proper with his age.His parents were consanguineous.On physical examination, he had microcephaly, mild dysmorphic features like hypertelorism, retrognatia and antevert ears, unilateral
bifid thumb, cryptorchidism and hypopigmented macule.He had additionally ectopic right kidney and secundum ASD.On complete blood count there were mild anemia, thrombocytopenia and neutropenia.HbF and AFP was elevated.Normal cellularity and morphology was shown on bone marrow examination.Chromosomal instability test with MMC was performed and found as positive.
