Dados do Trabalho

Título

SCHMID-FRACCARO SYNDROME: CASE REPORT

Apresentação do caso

A 4-month-old boy was seen at the genetics outpatient clinic of a public tertiary hospital in the state of Ceará with plagiocephaly, facial asymmetry, preauricular appendage, congenital heart disease, and bilateral cryptorchidism. During the course of treatment, the child underwent cardiac surgery and orchiopexy and experienced delayed neurological development, learning disability, and febrile seizures at the ages of 6 and 7. Anthropometric data on weight, height, and cranial circumference were normal. The child was the offspring of young, healthy, non-consanguineous parents. There were no perinatal complications. Complementary exams showed an echocardiogram with anomalous pulmonary vein tirar drainage, a CT scan of the cranium with plagiocephaly, normal fundus and abdominal ultrasounds, a normal skeletal X-ray, and a 47XY karyotype with a marker chromosome in 20 cells. A CGH-array was necessary to define the chromosomal disorder, and the diagnosis was a dup 22q11.1q11.21. Genetic counseling was provided, and karyotyping of the parents was requested, but due to difficulty accessing this test, it was not performed. The child remains under multidisciplinary outpatient care.

Discussão

Dup 22q11.1-q11.21, Schmid-Fraccaro syndrome, or Cat-eye syndrome is a rare genetic condition (1-9:100,000) that affects the development of the eyes, kidneys, heart, and cranial bones due to additional material on chromosome 22. The clinical variability is vast, making it impossible to determine the disease based on its clinical picture. In the case presented here, the child does not have the signs and symptoms that typically occur in this syndrome, probably due to the size of the duplicated genetic material. Neurological impairment is common in these cases.

Comentários finais

The etiological diagnosis of the presented case was possible through the application of CGH-array. Molecular testing has contributed to the identification of cases of congenital anomalies. Although this case is rare, it is common to have patients with a requirement for CGH-array due to congenital anomalies associated with delayed neurological development and/or learning disability.

Referências (se houver)

Palavras Chave

Chromosomes, Congenital Abnormalities, Diagnostic Techniques, Neurological.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

NÃO

Área

Neurogenética