Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhäuser syndrome) in two sisters with hypoplastic corpus callosum

Turkish Journal of Pediatrics

Volumn 44, Issue 3, 2002, Pages 274-277

  Balci, Sevim ^a   Tekşam, Özlem ^a   Gedik, Şansal ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Hypoplastic corpus callosum; Hypotomia; Macrocephaly; Megalocornea; Mental retardation; MMMM syndrome; Neuh user syndrome; Posterior cleft palate

Indexed keywords

ARTICLE; BRAIN ATROPHY; BRAIN FOURTH VENTRICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CLEFT PALATE; COMORBIDITY; CORNEA DISEASE; CORPUS CALLOSUM HYPOPLASIA; DANDY WALKER SYNDROME; EPICANTHUS; FEMALE; FETUS ECHOGRAPHY; FUNNEL CHEST; GENETIC COUNSELING; GENITAL MALFORMATION; HUMAN; MACROCEPHALY; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGNATHIA; MOTOR RETARDATION; MUSCLE HYPOTONIA; NEUHAUSER SYNDROME; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE MALFORMATION; PRESCHOOL CHILD;

CONSANGUINITY; CORNEA; CORPUS CALLOSUM; FATAL OUTCOME; FEMALE; HEAD; HUMANS; INFANT; MENTAL RETARDATION; MUSCLE HYPOTONIA; SYNDROME;

EID: 0036658955     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Neuhäuser G, Kaveggia EG, France TD, Opitz JM. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocornea, recessively inherited. Z Kinderheilk 1975; 120: 1-18.
2. Schmidt R, Rapin L. The syndrome of mental retardation and megalocornea. Am J Hum Genet 1981; 30: 90 A.
3. Del Giudice E, Sartorio R, Romano A, Carrozzo R, Andria G. Megalocornea and mental retardation syndrome: two new cases. Am J Med Genet 1987; 26: 417-420.
4. Raas-Rothschild A, Berkenstadt M, Goodman RM. Megalocornea and mental retardation syndrome. Am J Med Genet 1988; 29: 221-222.
5. Santolaya JM, Grijalbo A, Delgado A, Erdozain G. Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia. Am J Med Genet 1992; 43: 609-611.
6. Verloes A, Journel H, Elmer C, et al. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of probable types. Am J Med Genet 1993; 46: 132-137.
7. François J. "Le hérédité en Ophthalmologie". Paris: Masson; 1961: 332.
8. Frydman M, Berkenstadt A, Raas-Rothschild A, Goodman RM. Megalocornea, macrocephaly, mental and motor retardation (MMMM). Clin Genet 1990; 38: 149-154.
9. Kimura M, Kato M, Yoshino K, Ohtani K, Takeshita K. Megalocornea-mental retardation with delayed myelinization. Am J Med Genet 38: 132-133.