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Year Number of Results
1982 1
1986 1
1987 1
1997 1
2000 1
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2008 1
2011 1
2013 2
2020 1
2024 0

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12 results

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Page 1
Quantitative dysmorphology assessment in Fabry disease.
Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of the ears, bushy eyebrows, recessed forehead, pronounced nasal angle, generous nose/bulbous nasal tip, prominent supraorbital …
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of th …
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y. An Y, et al. Hum Genet. 2020 Apr;139(4):499-512. doi: 10.1007/s00439-020-02115-9. Epub 2020 Jan 24. Hum Genet. 2020. PMID: 31980904
In addition to autism, they also presented with prenatal onset macrocephaly, intellectual disability, overgrowth during puberty, sleep disorder, and dysmorphic features, including broad forehead with prominent supraorbital ridges, flat nasal bridge, telecanth …
In addition to autism, they also presented with prenatal onset macrocephaly, intellectual disability, overgrowth during puberty, sleep disor …
Ectodermal dysplasia: a review and case report.
Itthagarun A, King NM. Itthagarun A, et al. Quintessence Int. 1997 Sep;28(9):595-602. Quintessence Int. 1997. PMID: 9477874 Review.
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. ...
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges …
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A. Czeschik JC, et al. Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146. Orphanet J Rare Dis. 2013. PMID: 24053514 Free PMC article.
X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent …
X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial …
Hypohidrotic ectodermal dysplasia with true anodontia of the primary dentition.
Açikgöz A, Kademoglu O, Elekdag-Türk S, Karagöz F. Açikgöz A, et al. Quintessence Int. 2007 Nov-Dec;38(10):853-8. Quintessence Int. 2007. PMID: 18197325
He had frontal bossing, a saddle nose, reduced vertical facial dimension, and prominent supraorbital ridges and chin. Radiographs revealed absence of all primary and permanent teeth except the bilaterally unerupted maxillary permanent canines. ...
He had frontal bossing, a saddle nose, reduced vertical facial dimension, and prominent supraorbital ridges and chin. R …
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E. Barøy T, et al. Orphanet J Rare Dis. 2013 Jan 7;8:3. doi: 10.1186/1750-1172-8-3. Orphanet J Rare Dis. 2013. PMID: 23294540 Free PMC article.
Patients with deletion of SRO I manifested variable degrees of cognitive impairment, gait disturbance and distinct, similar facial dysmorphic features (prominent supraorbital ridges, deep set eyes, dark infraorbital circles and midface hypoplasia) that might …
Patients with deletion of SRO I manifested variable degrees of cognitive impairment, gait disturbance and distinct, similar facial dysmorphi …
Treatment considerations for a patient with hypohidrotic ectodermal dysplasia: a case report.
Bal C, Bal BT, Tüfekçioğlu D. Bal C, et al. J Contemp Dent Pract. 2008 Mar 1;9(3):128-34. J Contemp Dent Pract. 2008. PMID: 18335129
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. ...
Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges …
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
Karaer K, Rosti RO, Torun D, Sanal HT, Bahçe M, Güran S. Karaer K, et al. Turk J Pediatr. 2011 May-Jun;53(3):346-51. Turk J Pediatr. 2011. PMID: 21980822
A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, lo …
A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelor …
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
Shashi V, Berry MN, Shoaf S, Sciote JJ, Goldstein D, Hart TC. Shashi V, et al. Am J Hum Genet. 2000 Feb;66(2):469-79. doi: 10.1086/302772. Am J Hum Genet. 2000. PMID: 10677307 Free PMC article.
Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and …
Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, nar …
Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.
Carpenter NJ, Leichtman LG, Say B. Carpenter NJ, et al. Am J Dis Child. 1982 May;136(5):392-8. Am J Dis Child. 1982. PMID: 7081157
Their clinical findings include enlarged testicular volumes, low IQs (30 to 40), perseverative speech patterns, and characteristic facial features, including prominent supraorbital ridges, prognathism, and large ears. We recommend cytogenetic studies for both …
Their clinical findings include enlarged testicular volumes, low IQs (30 to 40), perseverative speech patterns, and characteristic facial fe …
12 results