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Small sella turcica

MedGen UID:
869368
Concept ID:
C4023794
Finding
Synonyms: Hypoplasia of hypophseal fossa; Hypoplasia of pituitary fossa; Hypoplasia of sella turcica; Small hypophyseal fossa; Small pituitary fossa
 
HPO: HP:0010538

Definition

An abnormally small sella turcica. [from HPO]

Conditions with this feature

Weismann-Netter syndrome
MedGen UID:
350610
Concept ID:
C1862172
Disease or Syndrome
The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009).
Microphthalmia with brain and digit anomalies
MedGen UID:
355268
Concept ID:
C1864689
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
MedGen UID:
394816
Concept ID:
C2678408
Disease or Syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).

Professional guidelines

PubMed

Wang J, Liu Z, Du J, Cui Y, Fang J, Xu L, Li G
Neuropathology 2016 Oct;36(5):432-440. Epub 2016 Feb 26 doi: 10.1111/neup.12291. PMID: 26919073
Mao JF, Zhang JL, Nie M, Lu SH, Wu XY
J Postgrad Med 2011 Oct-Dec;57(4):302-6. doi: 10.4103/0022-3859.90080. PMID: 22120859
Gsponer J, De Tribolet N, Déruaz JP, Janzer R, Uské A, Mirimanoff RO, Reymond MJ, Rey F, Temler E, Gaillard RC, Gomez F
Medicine (Baltimore) 1999 Jul;78(4):236-69. doi: 10.1097/00005792-199907000-00004. PMID: 10424206

Recent clinical studies

Diagnosis

Dharmshaktu P, Bhowmick J, Manglani D, Dhanwal DK
BMJ Case Rep 2013 Nov 21;2013 doi: 10.1136/bcr-2013-009014. PMID: 24265336Free PMC Article
Lemyre E, Lemieux N, Décarie JC, Lambert M
Am J Med Genet 1998 May 1;77(2):162-5. PMID: 9605291
Underwood LE, Radcliffe WB, Guinto FC
Radiology 1976 Jun;119(3):651-4. doi: 10.1148/119.3.651. PMID: 935404

Prognosis

Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC
Am J Med Genet B Neuropsychiatr Genet 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. PMID: 16389592

Clinical prediction guides

Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC
Am J Med Genet B Neuropsychiatr Genet 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. PMID: 16389592
Crottaz B, Uské A, Reymond MJ, Rey F, Temler E, Germond M, Gomez F
J Endocrinol Invest 1996 Jan;19(1):48-53. doi: 10.1007/BF03347858. PMID: 8851692

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