The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 459-465

  Dentici, Maria Lisa ^a   Mingarelli, Rita ^a   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Autosomal recessive; Blepharophimosis; Mental retardation

Indexed keywords

CHOLESTEROL; CORTICOTROPIN; GROWTH HORMONE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; THYROTROPIN;

APGAR SCORE; ARTICLE; ASTIGMATISM; AUTOSOMAL RECESSIVE DISORDER; BIRTH WEIGHT; BLEPHAROPHIMOSIS MENTAL RETARDATION SYNDROME; CASE REPORT; CESAREAN SECTION; CHILD; CLEFT PALATE; CONSTIPATION; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; EPICANTHUS; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GASTROESOPHAGEAL REFLUX; HETEROTOPIA; HUMAN; HYPERTELORISM; HYPOPHYSIS DISEASE; MALE; MICROCEPHALY; MICROGNATHIA; MIDFACE HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOHYDRAMNIOS; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PTOSIS; SCANTY HAIR; SPEECH DISORDER; STRABISMUS; TELECANTHUS; THYROTROPIN BLOOD LEVEL; TORTICOLLIS; VOMITING;

BLEPHAROPHIMOSIS; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; PREGNANCY; SIBLINGS; SYNDROME;

EID: 79951986692     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33642     Document Type: Article

References (29)

1. Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M. 2008. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. Eur J Med Genet 51: 113-123.
2. Biesecker LG. 1991. The Ohdo blepharophimosis syndrome: A third case. J Med Genet 28: 131-134.
3. Bonthron DT, Barlow KN, Burt AM, Barr DG. 1993. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). J Med Genet 30: 255-256.
4. Brancati F, Bernardini L, Cavalcanti DP, Romano C, Novelli A, Dallapiccola B. 2009. Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. Clin Genet 76: 210-213.
5. Buntinx I, Majewski F. 1990. Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. Am J Med Genet 36: 273-274.
6. Cavalcant DP. 1989. Unknown syndrome, abnormal facies, hypothyroidism, postaxial polydactyly and severe retardation: A third patient. J Med Genet 26: 785-786.
7. Clayton-Smith J, Krajewska-Walasek M, Fryer A, Donnai D. 1994. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol 3: 115-120.
8. Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. 2001. The putative forehead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 27: 159-166.
9. Cunniff C, Curtis M, Hassed SJ, Hoyme HE. 1998. Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet 75: 52-54.
10. Dallaire L, Fraser FC. 1969. The Smith-Lemli-Opitz syndrome of retardation, urogenital and skeletal anomalies. BDOAS 5: 180-182.
11. Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J. 2008. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet 74: 434-444.
12. de Die-Smulders CE, Droog RP, van Dijk M, Fryns JP. 1993. Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: A new syndrome? J Med Genet 30: 525.
13. Dubowitz V. 1965. Familial low birth weight dwarfism with an unusual facies and a skin eruption. J Med Genet 42: 12-17.
14. Guercio JR, Martyn LJ. 2007. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am 40: 113-140.
15. Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. 2009. Elements of morphology: Standard terminology for the periorbital region. Am J Med Genet Part A 149A: 29-39.
16. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37: 321-335.
17. Marden PM, Walker WA. 1966. A new generalized connective tissue syndrome. Am J Dis Child 112: 225-228.
18. Melnyk AR. 1994. Blepharophimosis, ptosis and mental retardation: Further delineation of Ohdo Syndrome. Clin Dysmorphol 3: 121-124.
19. Ohdo S, Madokoro H, Sonoda T, Hayakawa K. 1986. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 23: 242-244.
20. Porter FD. 2002. Malformation syndromes due to inborn errors of cholesterol synthesis. J Clin Invest 110: 715-724.
21. Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT. 2008. Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? Am J Med Genet Part A 146A: 1571-1574.
22. Say B, Barber N. 1987. Mental retardation with blepharophimosis. J Med Genet 24: 511.
23. Smith DW, Lemli L, Opitz JM. 1964. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64: 210.
24. Toriello HV, Carey JC. 1988. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome? Am J Med Genet 31: 17-23.
25. Tsukahara M, Opitz JM. 1996. Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients. Am J Med Genet 63: 277-289.
26. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. 2006. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet Part A 140A: 1285-1296.
27. Williams MS, Josephson KD, Wargowski DS. 1993. Marden-Walker syndrome: A case report and a critical review of the literature. Clin Dysmorphol 2: 211-219.
28. Young ID, Simpson K. 1987. Unknown syndrome: Abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 24: 715-716.
29. Zlotogora J, Sagi M, Cohen T. 1983. The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 35: 1020-1027.