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G/WEDS/GEN1 A CASE OF DEL(4)(Q33): PRESENTATION OF A GIRL WITH AN ENCEPHALOCELE

A. Vaglio1, M. Larrandaburu1, B. Mechoso1, A. Quadrelli1, R. Quadrelli1, H. Zhu2, Y. Fan2, T. Huang3, E. Strehle4.1Hospital Italiano, Montevideo, Uruguay; 2Mailman Center for Child Development, Miami, USA; 3University of California, Irvine, USA; 4Centre for Life, Newcastle upon Tyne, UK

We present clinical and developmental data on a girl with a de novo terminal deletion of the long arm of chromosome 4, del(4)(q33). The patient was evaluated at birth and followed up until 5 years of age. She showed facial and digital dysmorphism, a complex congenital heart defect, a large occipital encephalocele and postnatal growth deficiency. Her neuropsychomotor milestones were delayed and she developed learning difficulties. Apart from standard Giemsa banding, a molecular genetic analysis was performed using a comparative genomic hybridization (CGH) array. This revealed a terminal deletion at the band 4q32.3, which is directly adjacent to 4q33. The clinical findings in our patient differ from those described previously in patients with del(4)(q33) and del(4)(q32), respectively. In particular, the prominent occipital encephalocele has not been observed before in a terminal 4q deletion.

G/WEDS/GEN2 ROTHMUND–THOMSON SYNDROME: A RARE MULTISYSTEMIC DISORDER

V. Rao, S. Rambatla.WalsalltPCT, Walsall, UK

Background: Rothmund–Thomson syndrome is an extremely rare inherited multisystem disorder, characterised by distinctive abnormal skin, hair defects, juvenile cataracts, skeletal abnormalities, short stature, hypogonadism and risk of cancers

Case Presentation: UA is the third child of a Pakistani couple. She was dysmorphic, small for dates, had very pale skin for her ethnicity. She had corrective surgery for anal atresia with recto-vaginal fistula, and for hypoplastic thumbs. She remained under the care of the community child health service for her learning difficulty and short stature. At age …

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