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Forebrain defects

MedGen UID:
348301
•Concept ID:
C1861235
•
Disease or Syndrome
Synonym: Forebrain Defects

Recent clinical studies

Etiology

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.
Mehta A, Hindmarsh PC, Stanhope RG, Turton JP, Cole TJ, Preece MA, Dattani MT
Clin Endocrinol (Oxf) 2005 Aug;63(2):223-31. doi: 10.1111/j.1365-2265.2005.02330.x. PMID: 16060918
Apaf-1 deficiency and neural tube closure defects are found in fog mice.
Honarpour N, Gilbert SL, Lahn BT, Wang X, Herz J
Proc Natl Acad Sci U S A 2001 Aug 14;98(17):9683-7. doi: 10.1073/pnas.171283198. PMID: 11504943Free PMC Article

Diagnosis

Application of Ultrasonic Doppler Technology Based on Wavelet Threshold Denoising Algorithm in Fetal Heart Rate and Central Nervous System Malformation Detection.
Yan Z, Xu X, Wang Y, Li T, Ma B, Yang L, Lu Y, Li Q
World Neurosurg 2021 May;149:380-387. Epub 2020 Oct 13 doi: 10.1016/j.wneu.2020.10.030. PMID: 33065351
The face does predict the brain--midline facial and forebrain defects uncovered during the investigation of nasal obstruction and rhinorrhea. Case report and a review of holoprosencephaly and its classifications.
El-Hawrani A, Sohn M, Noga M, El-Hakim H
Int J Pediatr Otorhinolaryngol 2006 May;70(5):935-40. Epub 2005 Nov 8 doi: 10.1016/j.ijporl.2005.09.020. PMID: 16280170
Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients.
Willnow S, Kiess W, Butenandt O, Dorr HG, Enders A, Strasser-Vogel B, Egger J, Schwarz HP
Eur J Pediatr 1996 Mar;155(3):179-84. doi: 10.1007/BF01953934. PMID: 8929724

Therapy

The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.
Mehta A, Hindmarsh PC, Stanhope RG, Turton JP, Cole TJ, Preece MA, Dattani MT
Clin Endocrinol (Oxf) 2005 Aug;63(2):223-31. doi: 10.1111/j.1365-2265.2005.02330.x. PMID: 16060918

Prognosis

The face does predict the brain--midline facial and forebrain defects uncovered during the investigation of nasal obstruction and rhinorrhea. Case report and a review of holoprosencephaly and its classifications.
El-Hawrani A, Sohn M, Noga M, El-Hakim H
Int J Pediatr Otorhinolaryngol 2006 May;70(5):935-40. Epub 2005 Nov 8 doi: 10.1016/j.ijporl.2005.09.020. PMID: 16280170

Clinical prediction guides

Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S
Neurobiol Dis 2021 Mar;150:105236. Epub 2020 Dec 28 doi: 10.1016/j.nbd.2020.105236. PMID: 33383187
The face does predict the brain--midline facial and forebrain defects uncovered during the investigation of nasal obstruction and rhinorrhea. Case report and a review of holoprosencephaly and its classifications.
El-Hawrani A, Sohn M, Noga M, El-Hakim H
Int J Pediatr Otorhinolaryngol 2006 May;70(5):935-40. Epub 2005 Nov 8 doi: 10.1016/j.ijporl.2005.09.020. PMID: 16280170
The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.
Mehta A, Hindmarsh PC, Stanhope RG, Turton JP, Cole TJ, Preece MA, Dattani MT
Clin Endocrinol (Oxf) 2005 Aug;63(2):223-31. doi: 10.1111/j.1365-2265.2005.02330.x. PMID: 16060918
Endocrine disorders in septo-optic dysplasia (De Morsier syndrome)--evaluation and follow up of 18 patients.
Willnow S, Kiess W, Butenandt O, Dorr HG, Enders A, Strasser-Vogel B, Egger J, Schwarz HP
Eur J Pediatr 1996 Mar;155(3):179-84. doi: 10.1007/BF01953934. PMID: 8929724

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