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Microbrachycephaly

MedGen UID:
344607
•Concept ID:
C1855905
•
Finding

Recent clinical studies

Therapy

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA
Am J Med Genet A 2013 Feb;161A(2):237-43. Epub 2013 Jan 10 doi: 10.1002/ajmg.a.35743. PMID: 23307567
Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.
Schiffer C, Schiesser M, Lehr J, Tariverdian G, Glaeser D, Gabriel H, Mikuz G, Sergi C
Pathol Oncol Res 2007;13(3):255-9. Epub 2007 Oct 7 doi: 10.1007/BF02893507. PMID: 17922056
Valproate embryopathy: clinical and cognitive profile in 5 siblings.
Schorry EK, Oppenheimer SG, Saal HM
Am J Med Genet A 2005 Mar 1;133A(2):202-6. doi: 10.1002/ajmg.a.30494. PMID: 15669094
Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M
Am J Med Genet 1999 Sep 17;86(3):237-41. PMID: 10482872
Precocious puberty in a case with probable Angelman syndrome.
Young C, Wang PJ, Tsai WY, Shen YZ
Brain Dev 1994 May-Jun;16(3):249-52. doi: 10.1016/0387-7604(94)90080-9. PMID: 7943614

Prognosis

OEIS complex associated with chromosome 1p36 deletion: a case report and review.
El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ
Am J Med Genet A 2010 Feb;152A(2):504-11. doi: 10.1002/ajmg.a.33226. PMID: 20101692
A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency.
Pallotta R, Dalprà L, Miozzo M, Ehresmann T, Fusilli P
Am J Med Genet 2001 Dec 15;104(4):282-6. doi: 10.1002/ajmg.10068. PMID: 11754060
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
Allanson JE, Hennekam RC, Ireland M
J Med Genet 1997 Aug;34(8):645-50. doi: 10.1136/jmg.34.8.645. PMID: 9279756Free PMC Article
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.
Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, Martínez-de-Villarreal LE, Déctor MA
Am J Med Genet A 2013 Feb;161A(2):237-43. Epub 2013 Jan 10 doi: 10.1002/ajmg.a.35743. PMID: 23307567
OEIS complex associated with chromosome 1p36 deletion: a case report and review.
El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ
Am J Med Genet A 2010 Feb;152A(2):504-11. doi: 10.1002/ajmg.a.33226. PMID: 20101692
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
Pediatrics 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. PMID: 18245432
Valproate embryopathy: clinical and cognitive profile in 5 siblings.
Schorry EK, Oppenheimer SG, Saal HM
Am J Med Genet A 2005 Mar 1;133A(2):202-6. doi: 10.1002/ajmg.a.30494. PMID: 15669094
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
Allanson JE, Hennekam RC, Ireland M
J Med Genet 1997 Aug;34(8):645-50. doi: 10.1136/jmg.34.8.645. PMID: 9279756Free PMC Article

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