828 A Novel De Novo Mutation of Chromosome 7 [46, XX, DEL(7)(P14.2 P15.1)] in a Child with Feeding Problems

Abstract

Background: The phenotype and severity of symptoms associated with mutations of chromosome 7 are directly proportional to the number of bases away. Distal and interstitial deletions are described in 40 cases.

Aim: To report a child with a novel de novo mutation of chromosome 7 [46, XX, del(7)(p14.2 p15.1)].

Clinical Case: Female, born at 38 weeks with RCIU and feeding problems with episodes of cyanosis after feedings and failure to thrive. Physical examination showed low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, and palate ogived, insertion anomalies of the toes, poor facial expression and mild axial hypotonia.

A transfontanelar ultrasound, MRI, bronchofibroscopy and metabolic study were normal. She was hospitalized until the 32^th day of life.

She starts speech-language therapy and presented improvements in swallowing. The PEG was removed at 36 months.

She had recurrent UTI with normal DMSA but with a vesicoureteral reflux (grade III). She has taken UTI antibiotic prophylaxis.

Imagiological studies reveal a bilateral osteonecrosis of femoral epiphysis (Legg-Calvé-Perthes disease).

Nowadays (4years-old) she is being normally fed (BMI=15.8kg/m²). She has a mild delay of psychomotor development impairment (GQ: 74.1) and some speech problems.

Conclusion: This is the first case report of a patient with this de novo mutation of chromosome 7. This rare mutation was a cause of severe feeding problems in the first years of life.

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