All individuals with variants in gene CDK9

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00301702 18DG0161 PubMed: Maddirevula 2019 - F yes Qatar - - - - - ? pregnancy and delivery were unremarkable. He presented with failure to thrive, global developmental delay and epilepsy with history of choanal atresia. She has facial dysmorphic features including bilateral epicanthic folds, high nasal bridge, multiple bilateral preauricular ear tags, retrognathia, midface hypoplasia and asymmetric face. There is history of ventricular septal defect (closed now), and mild gastro-oesophageal reflux. Eye examination showed no coloboma, however, there was evidence of central vision impairment confirmed by ERG. She has subclinical hypothyroidism. CT scan of the temporal bones showed no middle ear and inner ear defects. Brain MRI showed diffuse atrophic brain lesions, MR Spectroscopy showed reduction of N-Acetyl Aspartate and elevation of lactate peak especially in the basal ganglia. There is positive family history of two twin daughters with similar presentation. In addition, there was history of 6 spontaneous miscarriages. 1 1 Johan den Dunnen
00301703 18DG0162 PubMed: Maddirevula 2019 - F yes Qatar - - - - - ? multiple congenital anomalies, seizures, bilateral deafness, visual impairment and global developmental delay. CT scan showed bilateral soft tissue choanal atresia. MRI brain showed Dandy-Walker variant, cerebellar atrophy, moderate dilatation of lateral ventricles, reduction in the size of right hippocampus and hypomyelination. She has right dysplastic atrophic kidney. Facial dysmorphism includes small eyes, midface hypoplasia and prominent ears. Echocardiography was normal. X-Ray of the thoracolumbar spine showed segmentation anomaly of the vertebrae at the level of T7 vertebra. Rest of the vertebral body heights and intervertebral disc spaces appeared normal. Accentuated thoracolumbar lordosis was seen. Mild generalized reduction in bone density was noted. Parents are first cousins. She has two healthy sisters and history of 2 miscarriages. Pregnancy was unremarkable.  1 1 Johan den Dunnen
00301704 18DG0165 PubMed: Maddirevula 2019 - F - Qatar - - - - - ? diagnosed clinically as CHARGE syndrome with bilateral cataract (operated) with secondary glaucoma, bilateral preauricular tags and unilateral choanal atresia. There is history of feeding problems and two tiny muscular VSDs with left to right shunt. Ultra sound of abdomen and sacrum was normal. Head CT showed right bony choanal atresia and bilateral ossicular anomalies (the middle ears ossicles appear dysmorphic, fused and displaced laterally, nearly attaching to the anterior wall of the middle ear cavity. Anomalous anterior location of the facial nerve descending segment course bilaterally was noted. The vestibules appeared bulbous. No CT evidence of eye coloboma but she did have congenital cataracts. 1 1 Johan den Dunnen
00387906 M9100018 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
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