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Bathrocephaly

MedGen UID:
116072
Concept ID:
C0238755
Congenital Abnormality
SNOMED CT: Bathrocephaly (450808003)
 
HPO: HP:0034974

Definition

A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture. [from HPO]

Professional guidelines

PubMed

Hersh DS, Bookland MJ, Hughes CD
Pediatr Clin North Am 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. PMID: 34247705

Recent clinical studies

Etiology

Hashmi A, Marupudi NI, Sood S, Rozzelle A
J Craniofac Surg 2017 Jun;28(4):898-903. doi: 10.1097/SCS.0000000000003512. PMID: 28549045
Wu JK, Goodrich JT, Amadi CC, Miller T, Mulliken JB, Shanske AL
Am J Med Genet A 2011 Feb;155A(2):287-94. Epub 2010 Dec 22 doi: 10.1002/ajmg.a.33800. PMID: 21271643
Galarza M, Martínez-Lage JF, Ham S, Sood S
Pediatr Neurosurg 2010;46(6):442-9. Epub 2011 May 3 doi: 10.1159/000327220. PMID: 21540621

Diagnosis

Hersh DS, Bookland MJ, Hughes CD
Pediatr Clin North Am 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. PMID: 34247705
Dias MS, Samson T, Rizk EB, Governale LS, Richtsmeier JT; SECTION ON NEUROLOGIC SURGERY, SECTION ON PLASTIC AND RECONSTRUCTIVE SURGERY
Pediatrics 2020 Sep;146(3) doi: 10.1542/peds.2020-015511. PMID: 32868470
Davanzo J, Samson T, Tubbs SR, Rizk E
Ital J Anat Embryol 2014;119(3):263-7. PMID: 26749687
Galarza M, Martínez-Lage JF, Ham S, Sood S
Pediatr Neurosurg 2010;46(6):442-9. Epub 2011 May 3 doi: 10.1159/000327220. PMID: 21540621

Prognosis

Galarza M, Martínez-Lage JF, Ham S, Sood S
Pediatr Neurosurg 2010;46(6):442-9. Epub 2011 May 3 doi: 10.1159/000327220. PMID: 21540621

Clinical prediction guides

Hashmi A, Marupudi NI, Sood S, Rozzelle A
J Craniofac Surg 2017 Jun;28(4):898-903. doi: 10.1097/SCS.0000000000003512. PMID: 28549045
Oostra RJ, van der Wolk S, Maas M, Hennekam RC
Am J Med Genet A 2005 Aug 1;136A(4):327-42. doi: 10.1002/ajmg.a.30769. PMID: 15937945

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