TITLE:
Hennekam Syndrome: A Case Report
AUTHORS:
Mariem Labrahimi, Madiha Benhachem, Aziza Elouali, Ayad Ghanam, Maria Rkain, Abdeladim Babakhouya
KEYWORDS:
Lymphangiectasia, Lymphoedema, Hennekam Syndrome
JOURNAL NAME:
Open Access Library Journal,
Vol.10 No.5,
May
18,
2023
ABSTRACT: Hennekam syndrome is a rare autosomal recessive disorder that was first described in 1989. It is characterized by congenital lymphoedema of the limbs, genitals, and face; intestinal lymphangiectasia; variable mental retardation; and typical craniofacial dysmorphism. The syndrome is genetically heterogeneous, which explains the variability of the clinical phenotype. We present a case report of a 16-month-old male infant who was born to consanguineous parents. The infant exhibited generalized lymphoedema, typical dysmorphic facial features, psychomotor development retardation, and respiratory distress due to upper airway obstruction caused by the absence of the lingual frenulum. To our knowledge, this anomaly has not been previously reported in the literature.