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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1994 1
1995 1
1996 1
2003 1
2004 1
2007 1
2012 2
2013 1
2015 1
2016 1
2017 1
2018 1
2024 0

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14 results

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Page 1
Anticipatory guidance for parents of Prader-Willi children.
Nolan ME. Nolan ME. Pediatr Nurs. 2003 Nov-Dec;29(6):427-30, 451. Pediatr Nurs. 2003. PMID: 14743837 Review.
The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a …
The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features ch …
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.
Salo-Mullen EE, Lynn PB, Wang L, Walsh M, Gopalan A, Shia J, Tran C, Man FY, McBride S, Schattner M, Zhang L, Weiser MR, Stadler ZK. Salo-Mullen EE, et al. Fam Cancer. 2018 Jan;17(1):71-77. doi: 10.1007/s10689-017-0006-x. Fam Cancer. 2018. PMID: 28555354 Free PMC article. Review.
Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, brachydactyly of the hands, palmar transverse crease, broad and small feet with hyperpigmentation of the soles. ...
Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, …
Making the diagnosis: metopic ridge versus metopic craniosynostosis.
Birgfeld CB, Saltzman BS, Hing AV, Heike CL, Khanna PC, Gruss JS, Hopper RA. Birgfeld CB, et al. J Craniofac Surg. 2013 Jan;24(1):178-85. doi: 10.1097/SCS.0b013e31826683d1. J Craniofac Surg. 2013. PMID: 23348281
CT scan findings were abstracted and compared between the two diagnoses. RESULTS: The "classic" triad of narrow forehead, biparietal widening, and hypotelorism was present in only 14% of patients with MCS. Ninety-eight percent of patients in both groups had a palpab …
CT scan findings were abstracted and compared between the two diagnoses. RESULTS: The "classic" triad of narrow forehead, bipa …
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Nowaczyk MJ, et al. Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21. Am J Med Genet A. 2012. PMID: 22438180
A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat face, normal jaw width, and retrognathia. ...
A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissure …
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.
Fernandez M, Zambrano MJ, Riquelme J, Castiglioni C, Kottler ML, Jüppner H, Mericq V. Fernandez M, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1125-1132. doi: 10.1515/jpem-2017-0226. J Pediatr Endocrinol Metab. 2017. PMID: 28902630 Free PMC article.
At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD). Physical exam showed a narrow forehead, nasal bridge hypoplasia and micropenis. After normalizing vitamin D, PTH remained elevated and PHP1B was therefore considere …
At 6 years an elevated PTH was detected with normal calcium and a low 25(OH) vitamin D level (25OHD). Physical exam showed a narrow …
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis.
Szpera-Goździewicz A, Ropacka-Lesiak M, Rzymski P, Bręborowicz GH. Szpera-Goździewicz A, et al. Ginekol Pol. 2016;87(1):76-8. doi: 10.17772/gp/61327. Ginekol Pol. 2016. PMID: 27306473 Free article.
At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia …
At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic co …
Autistic disorder and 22q11.2 duplication.
Mukaddes NM, Herguner S. Mukaddes NM, et al. World J Biol Psychiatry. 2007;8(2):127-30. doi: 10.1080/15622970601026701. World J Biol Psychiatry. 2007. PMID: 17455106
Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and operated cleft palate and cardiac problems, she had gone under cytogenetic analysis. ...
Because of her dysmorphic characteristics comprising narrow face, narrow forehead, mandibular prognathism, synophrys, and oper …
Cerebro-facio-thoracic dysplasia: report of three cases.
Pascual-Castroviejo I, Santolaya JM, Martin VL, Rodriguez-Costa T, Tendero A, Mulas F. Pascual-Castroviejo I, et al. Dev Med Child Neurol. 1975 Jun;17(3):343-51. doi: 10.1111/j.1469-8749.1975.tb04673.x. Dev Med Child Neurol. 1975. PMID: 1204988
The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posterio …
The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hyp …
Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).
Rufo-Campos M, Riveros-Huckstadt P, RodrIguez-Criado G, Hernández-Soto R. Rufo-Campos M, et al. Brain Dev. 2004 Apr;26(3):209-12. doi: 10.1016/S0387-7604(03)00133-5. Brain Dev. 2004. PMID: 15030912
We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped mou …
We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteri …
A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Eur J Med Genet. 2012 Apr;55(4):274-7. doi: 10.1016/j.ejmg.2012.02.010. Epub 2012 Mar 6. Eur J Med Genet. 2012. PMID: 22450339
We report a boy with severe developmental delay, seizures, microcephaly, hypoplastic corpus callosum, internal hydrocephalus and dysmorphic features (narrow forehead, round face, deep-set eyes, blue sclerae, large and prominent ears, nose with anteverted nares, thin …
We report a boy with severe developmental delay, seizures, microcephaly, hypoplastic corpus callosum, internal hydrocephalus and dysmorphic …
14 results