UDN Grand Rounds

Laboratory Genetics and Genomics (LGG) Fellows from the UDN Sequencing Core at Baylor College of Medicine will present 4 cases:

1. 15-month-old female with intrauterine growth retardation, short stature, failure to thrive, microcephaly, global developmental delay, hypertyrosinemia, plagiocephaly, dysmorphic feature, acrocyanosis, laryngomalacia, neonatal hyperbilirubinemia, abnormal levels of alpha-fetoprotein, skin rash, abnormal hair morphology and immune abnormality. Family history is positive for Gilbert syndrome.
2. Female with primary microcephaly, type I diabetes, gait disturbance, peripheral neuropathy, hypothyroidism, areflexia, growth hormone deficiency, autoimmune polyendocrine syndrome type II. Family history is significant for an older brother with congenital microcephaly, retinitis pigmentosa, adrenoinsufficiency and heart failure diagnosed at age 18.
3. Male with global developmental delay and multiple congenital anomalies, including cleft lip, heart defect, bilateral cryptorchidism, hypogonadism, bilateral sensorineural hearing loss, and dysmorphic facial features. Although his features were suggestive of CHD7 disorder, prior exome and SNP array analyses were non-diagnostic. Genome sequencing performed by the UDN identified an intronic variant of clinically relevance.
4. Female with developmental delay, structural brain malformations, epilepsy, and central visual impairment. Her deceased brother was similarly affected. Prior exome sequencing, mitochondrial, and microarra.

The Undiagnosed Diseases Network (UDN) is a consortium of sites across the US aimed at diagnosing patients through a personalized, multidisciplinary approach. Each UDN Grand Rounds session typically features a description of the clinical phenotype and diagnostic evaluation of one or more UDN patients. All are welcome to attend, ask questions, and offer insights on cases. One hour of CME credit is available at no charge for attendees.

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