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Microbrachycephaly

MedGen UID:
344607
•Concept ID:
C1855905
•
Finding

Recent clinical studies

Etiology

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
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
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
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
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
Gillessen-Kaesbach G, Meinecke P, Garrett C, Padberg BC, Rehder H, Passarge E
Am J Med Genet 1993 Feb 15;45(4):511-8. doi: 10.1002/ajmg.1320450422. PMID: 8465860

Diagnosis

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.
Kaymak D, Alpay V, Davutoğlu EA, Elçi O, Yiğin AK, Tüysüz B, Madazlı R
Am J Med Genet A 2023 Feb;191(2):617-623. Epub 2022 Nov 3 doi: 10.1002/ajmg.a.63024. PMID: 36326140
Roberts-SC phocomelia syndrome.
Maheshwari A, Kumar P, Dutta S, Narang A
Indian J Pediatr 2001 Jun;68(6):557-9. doi: 10.1007/BF02723253. PMID: 11450388
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
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.
Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM
Am J Med Genet 1984 Apr;17(4):809-26. doi: 10.1002/ajmg.1320170411. PMID: 6720746
The puppet-like syndrome of Angelman.
Dooley JM, Berg JM, Pakula Z, MacGregor DL
Am J Dis Child 1981 Jul;135(7):621-4. doi: 10.1001/archpedi.1981.02130310027010. PMID: 7246489

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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