article · BMC Pediatrics
LACHT syndrome is an exceedingly rare congenital disorder defined by lung agenesis, congenital heart defects, and thumb anomalies, with an unclear genetic cause. Only fifteen cases have been documented in medical literature prior to this report. This account describes a three-month-old female infant displaying the classic features of the condition alongside an ipsilateral branchial cleft cyst. This specific neck anomaly has not previously been documented in individuals diagnosed with the syndrome. The finding broadens the recognised clinical spectrum of the disorder and underscores the need for thorough diagnostic assessment to identify co-occurring congenital anomalies in infants presenting with these related conditions.
LACHT syndrome is an exceptionally rare condition that affects vital organs and physical development in infants. Documenting previously unrecognised physical features, such as branchial cleft cysts, helps paediatricians and medical specialists recognise the full breadth of the disorder. This knowledge aids clinical awareness, ensuring infants receive comprehensive diagnostic evaluations to identify and manage potentially life-threatening congenital defects promptly.
The abstract does not indicate an application pathway or commercialisation potential, as it is a descriptive clinical case report intended to broaden medical awareness.
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BACKGROUND: Lung agenesis is a rare congenital malformation. The combination of lung agenesis, congenital heart defects, and thumb anomalies characterizes LACHT syndrome, an extremely rare condition with an unclear genetic basis. To date, only 15 cases have been reported in the literature. CASE PRESENTATION: We report a new case of LACHT syndrome and review previously published cases of this rare association. Our patient was a three-month-old female infant who presented with the typical features of LACHT syndrome and an associated ipsilateral branchial cleft cyst, which has not been previously reported in patients with this syndrome. CONCLUSION: This previously unreported association expands the clinical spectrum of LACHT syndrome and highlights the importance of careful evaluation for additional congenital anomalies in affected patients.
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DOI: 10.1186/s12887-026-07209-3
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