title: [Hennekam syndrome: a case report and review of literature].
abstract: OBJECTIVE
  To study the clinical characteristics of Hennekam syndrome.
  
  
  METHODS
  We described a case of long-term iron deficiency anemia, characteristic facial anomalies, growth retardation, and intestinal lymphangiectasia. To our knowledge, this is the first case of Hennekam syndrome reported in China. Meanwhile, relevant literature was also reviewed.
  
  
  RESULTS
  A total of 35 cases of Hennekam syndrome were identified, consisting of 18 males and 17 females (age ranging 0 - 40 years old). Lymphangiectasia, lymphedema, facial anomalies (hypertelorism, flat nasal bridge and flat face) and developmental retardation were the major clinical manifestations of the syndrome. CCBE1 mutation may have played an important role in the pathogenesis of the syndrome. Long-term moderate-to-severe iron deficiency anemia was a distinctive feature of our case. Lymphangiography revealed lymphangiectasia of small intestine and lower limb, as well as thoracic outlet obstruction. Complete elimination of anemia and significant increase of serum albumin level were observed several months after the adhesiolysis procedure of the distal end of thoracic duct. However, anemia and severe hypoalbuminemia relapsed after taking greasy food.
  
  
  CONCLUSIONS
  Hennekam syndrome is a rare autosomal recessive syndrome characterized by defective lymphatic development. Congenital lymphangiectasia should be considered in the patients with unexplained developmental retardation and hypoalbuminemia. Moreover, intestinal lymphangiectasia can be a rare cause of gastrointestinal bleeding.
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: Shen
authors.forename: Hua-cong
authors.initials: HC
authors.lastname: Cai
authors.forename: Xue-min
authors.initials: XM
authors.lastname: Yan
authors.forename: Shu-lin
authors.initials: SL
authors.lastname: Liu
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.forename: Gang
authors.initials: G
authors.lastname: Sun
authors.forename: Jia-ming
authors.initials: JM
authors.lastname: Qian
authors.forename: Zhi-na
authors.initials: ZN
authors.lastname: Dun
authors.forename: Yong-qiang
authors.initials: YQ
authors.lastname: Zhao
mesh_terms: D019465:Craniofacial Abnormalities; D005260:Female; D005832:Genital Diseases, Male; D006801:Humans; D008201:Lymphangiectasis, Intestinal; D008209:Lymphedema; D055815:Young Adult