... AD 2 Neonatal/childhood hypotonia Language & motor DD Congenital abnormalities of urogenital system Epilepsy less common Say-Barber-Biesecker variant of ...

... features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital ... impairment. Diagnosis/testing. Before the molecular ...

... The major clinical manifestations of 22q11.2DS include congenital heart ... anomalies also occur. Psychiatric illness and autoimmune disorders ...

... placement. Many individuals with KS have gastroesophageal reflux. Abnormalities involving the ... Genitourinary Renal and urinary tract anomalies are seen in ...

... Acute myeloid leukemia Microcephaly Ophthalmic abnormalities Solid tumors Congenital abnormalities 3 Chromosome breakage/radial forms on lymphocyte cytogenetic ...

... when anomalies involving the ulna, lower limbs, kidneys, genitourinary system, vertebrae, craniofaces, and auditory or ocular systems are ... Malformations of thumbs, forearms, eyes, ears, oral cavity, genitourinary system, heart, gastrointestinal system, central nervous system DD Progressive ...

... Z scores to monitor for progressive aortic dilation Genitourinary system evaluation Ultrasound examination of the kidneys Physical examination ... al 1997 ], and also have been reported in congenital cutis laxa [ Tassabehji et al ... the abnormality of visuospatial constructive cognition in Williams syndrome [ Frangiskakis ...

... and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and ... system, eyes, ears, heart, gastrointestinal system, kidneys and genitourinary tract, and central nervous system can also occur. Progressive bone marrow failure with ...

... developing respiratory failure that leads to early death Congenital abnormalities including congenital heart disease and undescended testes Neurophysiologic ...