title: A new patient with LACHT syndrome (Mardini-Nyhan association).
abstract: LACHT syndrome, Lung Agenesis, Congenital Heart defects, and Thumb anomalies, (Mardini-Nyhan Association OMIM #601612) is a rare condition characterized by unilateral or bilateral lung agenesis, complex cardiac defects, especially anomalous pulmonary venous return, and thumb anomalies. Based on previous cases, its inheritance pattern seems to be autosomal recessive. In 1985, the syndrome was firstly described by Mardini and Nyhan in four patients from unrelated families. Until now, a total of eight patients have been reported in the literature. Molecular cause of the disease is still unknown. Here, we report on a patient with LACHT syndrome diagnosed by clinical findings. In this study, we present a 4.5-month-old female infant with right lung agenesis and inguinal hernia, in which ovaries are revealed on ultrasonography. The infant was born to consanguineous parents following a 38th week of gestation, with a birth weight of 2,800 g. Overall development was consistent with age; she had thumb abnormalities. Echocardiography showed peripheral pulmonary stenosis. The girl was diagnosed as LACHT syndrome based on the findings of unilateral lung agenesis, thumb anomalies, and peripheral pulmonary stenosis. LACHT syndrome should be considered in the differential diagnosis of patients with unilateral or bilateral lung agenesis. Here, we report on the 9th case in the literature. The consanguinity of the parents supports autosomal inheritance as the genetic basis of LACHT syndrome.
authors.affiliation: Department of Pediatrics, Division of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Tahir
authors.initials: T
authors.lastname: Atik
authors.forename: Huseyin Ozan
authors.initials: HO
authors.lastname: Torun
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype; D013902:Radiography, Thoracic; D013577:Syndrome
keywords: LACHT syndrome; Mardini-Nyhan association; bifid thumb; lung agenesis