Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy

Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conventional G-banding may appear normal. Neonatal recognition is rarely reported, and early phenotypic features remain insufficiently defined. We report the case of a male infant born at 37 + 6 weeks of gestation with intrauterine growth restriction, micrognathia, feeding difficulties, hypotonia, and cardiopulmonary instability. Prenatal echocardiography suggested coarctation of the aorta, while postnatal imaging revealed mild bilateral pulmonary artery branch narrowing and distal aortic arch tapering without hemodynamic significance. Research-based trio exome sequencing suggested an approximately 6.5 Mb terminal deletion of chromosome 14q32.2-q32.33, which was subsequently confirmed by chromosomal microarray. Although craniofacial features appeared subtle at birth, a retrospective review following genetic confirmation revealed additional dysmorphic traits. This case underscores the diagnostic utility of genomic testing, which enabled confirmation of distal 14q deletion at 1 month of age. In contrast, previously reported cases were typically diagnosed later in childhood. Our findings refine the neonatal phenotypic spectrum of distal deletion 14q syndrome by documenting subtle but identifiable early craniofacial, vascular, feeding, and auditory features that may prompt earlier suspicion. Early confirmation provided reassurance regarding recurrence risk and allowed for timely planning of nutritional, developmental, and audiological support. This case illustrates how genomic testing can narrow a long-standing diagnostic gap and highlights key neonatal clues that may facilitate earlier recognition of distal deletion 14q syndrome.