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Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.
Hayek F. Hayek F. J Med Case Rep. 2018 Nov 29;12(1):354. doi: 10.1186/s13256-018-1868-8. J Med Case Rep. 2018. PMID: 30486853 Free PMC article.
BACKGROUND: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus. CASE PRES …
BACKGROUND: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenit …
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
We recognize syndromes associated with GH deficiency (GHD), showing a developmental midline defect such as Pallister-Hall syndrome, septo-optic dysplasia, but many of these conditions do not have a convincing link with GHD. ...
We recognize syndromes associated with GH deficiency (GHD), showing a developmental midline defect such as Pallister-Hall s …
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.
Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B. Galasso C, et al. Am J Med Genet. 2001 Mar 1;99(2):128-31. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1128>3.0.co;2-s. Am J Med Genet. 2001. PMID: 11241471
Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. ...We conclude that children with Pallister-Hall syndrome and short stature …
Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, centr …
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome.
Wakamoto H, Sumi A, Motoki T, Ohmori H. Wakamoto H, et al. Brain Dev. 2010 Sep;32(8):677-80. doi: 10.1016/j.braindev.2009.09.003. Epub 2009 Sep 29. Brain Dev. 2010. PMID: 19793630
Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with …
Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic se …
Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.
Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N. Encha-Razavi F, et al. Am J Med Genet. 1992 Jan 1;42(1):44-50. doi: 10.1002/ajmg.1320420111. Am J Med Genet. 1992. PMID: 1308364
In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non-random congenital malformation association, suggestive of Meckel syndrome. ...Nevertheless, a spectrum of skeletal abnormalities has been described in …
In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non-random con …
Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?
Shashi V, Clark P, Rogol AD, Wilson WG. Shashi V, et al. Am J Med Genet. 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. Am J Med Genet. 1995. PMID: 7645593
The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hyd …
The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists wi …