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Cranium bifidum occultum(FPP)

MedGen UID:
358250
Concept ID:
C1868598
Congenital Abnormality; Finding
Synonyms: CATLIN MARKS; CRANIUM BIFIDUM, HEREDITARY; Enlarged parietal foramina
SNOMED CT: Enlarged parietal foramina (718099006); Catlin marks (718099006); Hereditary cranium bifidum (718099006); Symmetric parietal foramina (718099006)
 
Related genes: ALX4, MSX2
 
HPO: HP:0004423
OMIM®: 168500

Definition

The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings.

There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause.

Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. [from MedlinePlus Genetics]

Conditions with this feature

Gollop syndrome
MedGen UID:
444125
Concept ID:
C2931720
Disease or Syndrome
The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).
Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.

Professional guidelines

Recent clinical studies

Etiology

Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349
Okumoto T, Iijima Y, Yoshimura Y
J Plast Reconstr Aesthet Surg 2012 Mar;65(3):e64-6. Epub 2011 Nov 25 doi: 10.1016/j.bjps.2011.10.013. PMID: 22119376
Martínez-Lage JF, Poza M, Sola J, Soler CL, Montalvo CG, Domingo R, Puche A, Ramón FH, Azorín P, Lasso R
Childs Nerv Syst 1996 Sep;12(9):540-50. doi: 10.1007/BF00261608. PMID: 8906370

Diagnosis

Dossani RH, Yates DM, Kalakoti P, Nanda A, Notarianni C, Woerner J, Ghali GE
World Neurosurg 2017 Nov;107:40-46. Epub 2017 May 15 doi: 10.1016/j.wneu.2017.05.032. PMID: 28522383
Vedajallam S, Chacko A, Andronikou S, Truter R, White G
Pediatr Neurosurg 2012;48(4):261-3. Epub 2013 Apr 3 doi: 10.1159/000348557. PMID: 23571231
Okumoto T, Iijima Y, Yoshimura Y
J Plast Reconstr Aesthet Surg 2012 Mar;65(3):e64-6. Epub 2011 Nov 25 doi: 10.1016/j.bjps.2011.10.013. PMID: 22119376
Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM
Clin Dysmorphol 2008 Apr;17(2):79-85. doi: 10.1097/MCD.0b013e3282f449c8. PMID: 18388775
DeMyer W
Neurology 1967 Oct;17(10):961-71. doi: 10.1212/wnl.17.10.961. PMID: 6069608

Prognosis

Okumoto T, Iijima Y, Yoshimura Y
J Plast Reconstr Aesthet Surg 2012 Mar;65(3):e64-6. Epub 2011 Nov 25 doi: 10.1016/j.bjps.2011.10.013. PMID: 22119376
Martínez-Lage JF, Poza M, Sola J, Soler CL, Montalvo CG, Domingo R, Puche A, Ramón FH, Azorín P, Lasso R
Childs Nerv Syst 1996 Sep;12(9):540-50. doi: 10.1007/BF00261608. PMID: 8906370

Clinical prediction guides

Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L
Am J Med Genet A 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. PMID: 29136349
Dossani RH, Yates DM, Kalakoti P, Nanda A, Notarianni C, Woerner J, Ghali GE
World Neurosurg 2017 Nov;107:40-46. Epub 2017 May 15 doi: 10.1016/j.wneu.2017.05.032. PMID: 28522383
Nevin NC, Leonard AG, Jones B
Am J Med Genet 1999 Nov 26;87(3):251-3. doi: 10.1002/(sici)1096-8628(19991126)87:3<251::aid-ajmg10>3.0.co;2-g. PMID: 10564879

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