Prenatal sonographic diagnosis of Malpuech syndrome

Prenatal Diagnosis

Volumn 26, Issue 12, 2006, Pages 1121-1123

  Turnbull, Clare ^a   Lees, Melissa ^a   Chitty, Lyn S ^b,c  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Autosomal recessive; Cleft lip palate; Consanguinity; Fetal ultrasound; Malpuech syndrome; Prenatal diagnosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLEFT LIP; CLEFT PALATE; DISEASE ASSOCIATION; ECHOGRAPHY; FACE DYSMORPHIA; FAMILY HISTORY; FETUS; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; INTRAUTERINE GROWTH RETARDATION; KIDNEY MALFORMATION; MALE; MALPUECH SYNDROME; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PENIS DISEASE; PREGNANCY; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RECURRENT DISEASE; THREE DIMENSIONAL IMAGING; ULTRASOUND;

ABNORMALITIES, MULTIPLE; CLEFT LIP; CLEFT PALATE; FACE; FAMILY; FEMALE; FETAL DISEASES; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 33845578522     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1564     Document Type: Article

References (5)

1. Chinen Y, Naritomi K. 1995. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. Jpn J Hum Genet 40(4): 335-338.
2. Crisponi G, Marras AR, Corrias A. 1999. Two sibs with Malpuech syndrome. Am J Med Genet 86(3): 294-299.
3. Guion-Almeida ML. 1995. Apparent Malpuech syndrome: report on three Brazilian patients with additional signs. Am J Med Genet 58(1): 13-17.
4. Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ. 2005. Malpuech syndrome: three patients and a review. Am J Med Genet A 134(4): 450-453.
5. Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P. 1983. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet 16(4): 475-480.