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Thin calvarium

MedGen UID:
341097
Concept ID:
C1856231
Finding
Synonyms: Thin cranial bone; Thin skull bone
 
HPO: HP:0010539

Definition

The presence of an abnormally thin calvarium. [from HPO]

Conditions with this feature

Hallermann-Streiff syndrome
MedGen UID:
5414
Concept ID:
C0018522
Disease or Syndrome
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).

Professional guidelines

PubMed

Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Georgalas C, Oostra A, Ahmed S, Castelnuovo P, Dallan I, van Furth W, Harvey RJ, Herman P, Kombogiorgas D, Locatelli D, Meco C, Palmer JN, Piltcher O, Sama AM, Saleh H, Sindwani R, Van Zele T, Woodworth BA
Int Forum Allergy Rhinol 2021 Apr;11(4):794-803. Epub 2020 Oct 25 doi: 10.1002/alr.22704. PMID: 33099888
Roh MR, Chung KY
Dermatol Surg 2009 Aug;35(8):1163-71. Epub 2009 May 15 doi: 10.1111/j.1524-4725.2009.01213.x. PMID: 19469797

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