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Hypoplasia of the frontal bone

MedGen UID:
375593
Concept ID:
C1845147
Finding
Synonym: Hypoplastic frontal bones
 
HPO: HP:0005466

Definition

Underdevelopment of the frontal bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the frontal bone

Conditions with this feature

Hartsfield-Bixler-Demyer syndrome
MedGen UID:
335111
Concept ID:
C1845146
Congenital Abnormality
FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen.
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).

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
Tessier P
Plast Reconstr Surg 1974 Jan;53(1):1-18. doi: 10.1097/00006534-197401000-00001. PMID: 4588596
Chawla S, Sikand S, Vohra S
Br J Radiol 1969 May;42(497):391-4. doi: 10.1259/0007-1285-42-497-391. PMID: 4976428

Recent clinical studies

Etiology

Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Azmi A, Latiff AZ, Johari A
Med J Malaysia 2004 Aug;59(3):418-21. PMID: 15727391
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997
Dickinson JT, Cipcic JA, Kamerer DB
Laryngoscope 1969 Jun;79(6):1019-74. doi: 10.1288/00005537-196906000-00001. PMID: 4891756

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
Andrews BT, Meara JG
Atlas Oral Maxillofac Surg Clin North Am 2010 Sep;18(2):129-38. doi: 10.1016/j.cxom.2010.06.002. PMID: 21036314
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997

Therapy

Fearon JA, Ditthakasem K, Garcia JC, Herbert M
Plast Reconstr Surg 2018 Sep;142(3):334e-341e. doi: 10.1097/PRS.0000000000004649. PMID: 30148778
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543
Shabtai L, Herzenberg JE
J Am Acad Orthop Surg 2016 Oct;24(10):691-701. doi: 10.5435/JAAOS-D-14-00234. PMID: 27564792
Bouali H, Latrech H
Pediatr Endocrinol Rev 2015 Jun;12(4):388-95. PMID: 26182483
Azmi A, Latiff AZ, Johari A
Med J Malaysia 2004 Aug;59(3):418-21. PMID: 15727391

Prognosis

Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296
van der Meulen J
Childs Nerv Syst 2012 Sep;28(9):1359-67. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1803-z. PMID: 22872249Free PMC Article
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997
Dickinson JT, Cipcic JA, Kamerer DB
Laryngoscope 1969 Jun;79(6):1019-74. doi: 10.1288/00005537-196906000-00001. PMID: 4891756

Clinical prediction guides

Hwang SW, Hwang K, Tukeshov SK
J Craniofac Surg 2023 Sep 1;34(6):1804-1806. Epub 2023 May 22 doi: 10.1097/SCS.0000000000009368. PMID: 37220719
Tiberio F, Parolini O, Lattanzi W
Genes (Basel) 2021 Jul 14;12(7) doi: 10.3390/genes12071073. PMID: 34356089Free PMC Article
Xie K, Liu S, Huang B, Yao M
Pain Res Manag 2020;2020:8142489. Epub 2020 Feb 26 doi: 10.1155/2020/8142489. PMID: 32184911Free PMC Article
Buller J, Maus V, Grandoch A, Kreppel M, Zirk M, Zöller JE
J Oral Maxillofac Surg 2018 Oct;76(10):2168.e1-2168.e7. Epub 2018 Jun 22 doi: 10.1016/j.joms.2018.06.020. PMID: 30009786
Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543

Recent systematic reviews

Munhoz L, Arita ES, Nishimura DA, Watanabe PCA
Oral Radiol 2021 Jan;37(1):2-12. Epub 2019 Nov 16 doi: 10.1007/s11282-019-00416-y. PMID: 31734933
Shabtai L, Herzenberg JE
J Am Acad Orthop Surg 2016 Oct;24(10):691-701. doi: 10.5435/JAAOS-D-14-00234. PMID: 27564792

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