title: Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome.
abstract: OBJECTIVE
  McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). It is very difficult to diagnose MKS prenatally because of overlapping manifestations and associated anomalies with other syndromes. Herein, we present a case of MKS with prenatal ultrasound illustrating a fetal abdominal cystic mass.
  
  
  METHODS
  A 33-year-old woman, gravida 3 para 2, was referred to our obstetrics clinic at 34 weeks' gestation for fetal abdominal cyst detected by prenatal ultrasound. Our ultrasound illustrated a fetal abdominal cystic mass with two communicating components (suspected HMC) and polydactyly involving both hands and feet. At birth, the gross appearance revealed abdominal distention, vulva edema, and PAP. MKS was highly suspected. Abdominal computed tomography (CT) at 3 days of life showed HMC with a transverse vaginal septum. At 3 months of age, she received colpotomy and vaginal reconstruction to relieve the abdominal distension by HMC. Then she accepted corrections of PAP of both hands and feet at 8 months and 10 months. At 5 years of age, her body and mental development did not show any retardation. Pediatric ophthalmologic examination revealed no specific findings. Given the above evidences, the diagnosis of MKS was finally made at 5 years of age.
  
  
  CONCLUSIONS
  Rare syndromes like MKS may need early comprehensive evaluations and consultations. Although prenatal diagnosis might be impossible for MKS, prenatal awareness by fetal ultrasound is very helpful to assist early management and maternal transfer. The final diagnosis and appropriate management of MKS requires the collaboration of obstetricians, geneticists, pediatricians, and ophthalmologists as soon as abnormal signs are detected in utero.
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.
authors.forename: Hsing-Fen
authors.initials: HF
authors.lastname: Tsai
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan. Electronic address: pockey1202@gmail.com.
authors.forename: Meng-Hsing
authors.initials: MH
authors.lastname: Wu
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.
authors.forename: Yueh-Chin
authors.initials: YC
authors.lastname: Cheng
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.
authors.forename: Chiung-Hsin
authors.initials: CH
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.
authors.forename: Fong-Ming
authors.initials: FM
authors.lastname: Chang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000601:surgery*; D006801:Humans; D052202:Hydrocolpos / Q000175:diagnosis* / Q000601:surgery*; D007223:Infant; D007231:Infant, Newborn; D017689:Polydactyly / Q000175:diagnosis* / Q000601:surgery*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014591:Uterine Diseases / Q000175:diagnosis* / Q000601:surgery*
keywords: McKusick-Kaufman syndrome; hydrometrocolpos; polydactyly