1 - Serviço de Genética Médica, Hospital Dona Estefânia, Centro Hospitalar e Universitário Lisboa Central, Lisboa, Portugal
- EuroDysmorpho – ITACHA, reunião internacional, sob forma de comunicação oral
Case report: A 6-years-old female was first referred to our outpatient genetic department at neonatal period with a polymalformative syndrome. She was the first child of non-consanguineous parents with a family history of severe psychiatric disease and craniosynostosis. Pregnancy was complicated with gestational diabetes. Invasive prenatal diagnosis was performed through amniocentesis due to advanced maternal age, and a karyotype was completed with a normal result (46,XX). At the third trimester ultrasound a single umbilical cord and a mild ventriculomegaly were identified.
The patient was born at 37 weeks and 5 days of gestation with low birth weight, respiratory distress that required mechanical ventilation and was transferred to the neonatal intensive care unit. At our observation she showed trigonocephaly, facial asymmetry, small hypopigmentation patch in the right temporal region, mid face hypoplasia, anteverted nares, brachydactyly, and anterior anus. A maxilla-mandibular CT was performed that identified an incomplete choanal atresia. MRI confirmed ventriculomegaly. Echocardiogram revealed a patent foramen ovale, mild mitral regurgitation, and patent arterial duct that required a transcatheter closure. Abdominal imaging identified mild hepatomegaly.
At 2-years-old she was diagnosed with bilateral peripheric subtotal cataracts, partial iris heterochromia and recurrent blepharitis. Additional medical findings included metopic craniosynostosis, congenital torticollis, Achilles tendon shortening, and global developmental delay. A subsequent MRI identified a supratentorial ventriculomegaly, unilateral agenesis of parotid gland, and spinal cord anchored in a fibrous tractus that is embedded in a subcutaneous lipoma.
Extensive investigation was performed with normal chromosomal microarray analysis and exome. Considering a possible FGFR2 related disorder, a molecular study of FGFR2 gene was also completed, but no further pathogenic variants were identified.
This case remains without a molecular diagnosis that could offer an appropriated genetic counselling and a better surveillance to this patient and family. By presenting this case, we hope that it’s discussion can bring us one step closer to a possible molecular diagnosis.
Palavras Chave: polymalformative syndrome