Characterization of Brain Malformations in the Baraitser-Winter Syndrome and Review of the Literature

Abstract

Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. We report a further case and provide updated information about an unrelated girl reported in the original paper by Baraitser and Winter. Both of them presented with pachygyria and the latter case was recently found to have subcortical band heterotopia on high resolution brain MRI imaging. These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of syndromic neuronal migration defect.

Key words

Baraitser-Winter syndrome - subcortical band heterotopia - pachygyria - lissencephaly - neuronal migration anomalies

References

• 1 Ayme S, Mattei M G, Mattei J F, Giraud F. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.  Hum Genet. 1979;  48 7-12
• 2 Baraitser M, Winter R M. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.  J Med Genet. 1988;  25 41-43
• 3 Berends M JW, Tan-Sindhunata G, Leegte B, Van-Essen A J. Phenotypic variability of Cat-Eye syndrome.  Genet Counseling. 2001;  12 23-34
• 4 Dobyns W B, Leventer R J. Lissencephaly: the clinical and molecular genetic basis of diffuse malformations of neuronal migration. Barth PG Disorders of Neuronal Migration. London, UK; McKeith Press 2003: 24-57
• 5 Fogli A, Giglio S, Arrigo G, Lo Nigro C, Zollo M, Viggiano L. et al . Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes.  Cytogenet Cell Genet. 1999;  86 225-232
• 6 Fryns J P. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.  Am J Med Genet. 1996;  64 521-522
• 7 Gravholt C H, Warburg M, Friedrich U. Mild Noonan phenotype associated with coloboma of the iris and choroid.  Clin Dysmorphol. 2002;  11 75-77
• 8 Hall B D. Iris coloboma, ptosis, hypertelorism, and mental retardation.  J Med Genet. 1989;  26 69
• 9 Lacbawan F L, White B J, Anguiano A, Rigdon D T, Ball K D, Bromage G B. et al . Rare interstitial deletion (2)(p11. 2 p13) in a child with pericentric inversion (2)(p11. 2 q13) of paternal origin.  Am J Med Genet. 1999;  87 139-142
• 10 Le Marec B, Odent S, Urvoy M. A new syndrome with ptosis, coloboma and mental retardation.  Genetic Counseling. 1992;  3 119-120
• 11 Macchia P E, Lapi P, Krude H, Pirro M T, Missero C, Chiovato L. et al . PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.  Nat Genet. 1998;  19 83-86
• 12 Megarbane A, Le Merrer M, el Kallab K. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.  Clin Dysmorphol. 1997;  6 239-244
• 13 Pallotta R, Dalprà L, Morgese G, Midulla M, Tibiletti M G, Nocera G F. Su un caso di inversione pericentrica del cr. 2.  Riv Siciliana Med Prenat Neonat Pediatr Genet. 1983;  4 183
• 14 Pallotta R. Una nuova sindrome a probabile localizzazione sul cr 2.  Riv Ital Pediatr. 1987;  13 207
• 15 Pallotta R. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.  J Med Genet. 1991;  28 342-344
• 16 Ramer J C, Mascari M J, Manders E, Ladda R L. Syndrome identification #149: trigonocephaly, pachygyria, retinal coloboma, and cardiac defect: a distinct syndrome.  Dysmorphol Clin Genet. 1992;  6 15-20
• 17 Ramer J C, Lin A E, Dobyns W B, Winter R M, Ayme S, Pallotta R. et al . Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.  Am J Med Genet. 1995;  57 403-409
• 18 Reiner O, Bar-Am I, Sapir T, Shmueli O, Carrozzo R, Lindsay E A. et al . LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.  Genomics. 1995;  30 251-256
• 19 Schaap C, Schrander-Stumpel C TRM, Fryns J P. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.  Genetic Counseling. 1992;  3 209-215
• 20 Sicca F, Silengo M, Parrini E, Ferrero G B, Guerrini R. Subcortical band heterotopia with simplified gyral pattern and syndactyly.  Am J Med Genet. 2003;  119 207-210
• 21 Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?.  J Med Genet. 1993;  30 425-426
• 22 Winter R M, Baraitser M. Oxford Medical Database. Version 3. 2001. Oxford; Oxford University Press 2001