New Case of Coffin-Siris Syndrome with Cleft Palate

Abstract

Introduction: Coffin-Siris syndrome (CSS) is a heterogenous disorder that includes cleft palates, hearing impairment, and epilepsy. The genes involved are part of the BAF complex, including SMARC4, which has a higher predisposition to certain tumors.

Objective: To describe a new case of CSS with a cleft palate.

Methods: A 4-year-old male, the third child of non-consanguineous parents, with a history of seizures. He was born at 38 weeks via cesarean section, STORCH negative, with a birth weight of 2810g and a length of 47 cm. He had complications at birth, including respiratory distress syndrome, bradycardia, and a cleft palate, requiring neonatal intensive care. Developmental milestones included sitting at 11 months and walking at 4 years, but he did not speak. Radiography revealed delayed bone development and spatulate fingertips. Brain MRI showed dysgenesis of the corpus callosum, mainly affecting the splenium, periventricular hyperintensities suggestive of gliosis, age-expected hypomyelination, and a normal electroencephalogram. Auditory potentials showed alterations in the right ear. Metabolic studies and thyroid profile were within normal limits. Physical examination revealed a weight of 13 kg, height of 103 cm, head circumference of 50 cm, brachycephaly, right-sided plagiocephaly, facial asymmetry, broad forehead, small palpebral fissures, bilateral inverse epicanthus, hypertelorism, a small nose with a low bridge and upturned tip, retrognathia, corrected posterior cleft palate, low-set ears rotated backward, short neck, broad chest, deep palmar creases, thin and long fingers, hypotonia, non-compliance with instructions, and apraxia.

Results: Normal karyotype 46 XY [26], negative genomic hybridization, clinical exome variant, likely pathogenic, in the SMARCA4 gene (c.2681C>T, p.Thr894Met).

Conclusions: Our case represents a new instance of cleft palate associated with CSS.