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Page 1
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead …
Performance of Statistical Indicators in the Objective Detection of Speech-Evoked Envelope Following Responses.
Urichuk M, Easwar V, Scollie S, Purcell D. Urichuk M, et al. Ear Hear. 2022 Nov-Dec 01;43(6):1669-1677. doi: 10.1097/AUD.0000000000001232. Epub 2022 May 2. Ear Hear. 2022. PMID: 35499293
Presentation level in infants was corrected using in-ear measurements. EFRs were recorded between high forehead and ipsilateral mastoid. Statistical post-processing was completed using F -test, Magnitude-Square Coherence, Rayleigh test, Rayleigh-Moore test, and Hote …
Presentation level in infants was corrected using in-ear measurements. EFRs were recorded between high forehead and ipsilatera …
Natural history of 39 patients with Achondroplasia.
Ceroni JRM, Soares DCQ, Testai LC, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN, Bertola DR, Kim CA. Ceroni JRM, et al. Clinics (Sao Paulo). 2018 Jul 2;73:e324. doi: 10.6061/clinics/2018/e324. Clinics (Sao Paulo). 2018. PMID: 29972438 Free PMC article.
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 an …
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments …
Further delineation of SET-related intellectual disability syndrome.
Shono K, Enomoto Y, Tsurusaki Y, Kumaki T, Masuno M, Kurosawa K. Shono K, et al. Am J Med Genet A. 2022 May;188(5):1595-1599. doi: 10.1002/ajmg.a.62681. Epub 2022 Feb 5. Am J Med Genet A. 2022. PMID: 35122673
A loss-of-function mutation of SET causes nonsyndromic intellectual disability, often associated with mild facial dysmorphic features, including plagiocephaly, facial asymmetry, broad and high forehead, a wide mouth, and a prominent mandible. We report a male indivi …
A loss-of-function mutation of SET causes nonsyndromic intellectual disability, often associated with mild facial dysmorphic features, inclu …
Macrocephaly and Finger Changes: A Narrative Review.
Lazea C, Vulturar R, Chiș A, Encica S, Horvat M, Belizna C, Damian LO. Lazea C, et al. Int J Mol Sci. 2024 May 20;25(10):5567. doi: 10.3390/ijms25105567. Int J Mol Sci. 2024. PMID: 38791606 Free PMC article. Review.
Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly …
Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological proces …
"You are so beautiful"*: behind women's attractiveness towards the biology of reproduction: a narrative review.
Buggio L, Vercellini P, Somigliana E, Viganò P, Frattaruolo MP, Fedele L. Buggio L, et al. Gynecol Endocrinol. 2012 Oct;28(10):753-7. doi: 10.3109/09513590.2012.662545. Epub 2012 Mar 6. Gynecol Endocrinol. 2012. PMID: 22394274 Review.
In current societies, it appears that facial attractiveness results from a mixture of symmetry and averageness of traits, high forehead and cheekbones, small nose and chin, full lips, thin eyebrows, and thick hair. A low WHR reliably characterized physical attractiv …
In current societies, it appears that facial attractiveness results from a mixture of symmetry and averageness of traits, high for …
Crouzon syndrome with multiple supernumerary teeth.
Torun GS, Akbulut A. Torun GS, et al. Niger J Clin Pract. 2017 Feb;20(2):261-263. doi: 10.4103/1119-3077.187332. Niger J Clin Pract. 2017. PMID: 28091449
A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits. Bilateral multiple supernumerary teeth were observed in his upper and lower jaws. Early diagnosis of …
A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral p …
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK. Craddock KE, et al. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004200. doi: 10.1101/mcs.a004200. Print 2019 Aug. Cold Spring Harb Mol Case Stud. 2019. PMID: 31167805 Free PMC article.
We report an additional 10 individuals with pleckstrin homology domain-interacting protein (PHIP)-predicted deleterious variants (four frameshift, three missense, two nonsense, and one splice site; six of which are confirmed de novo). ...
We report an additional 10 individuals with pleckstrin homology domain-interacting protein (PHIP)-predicted deleterious variants (fou …
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI. Wilson GN, et al. Am J Med Genet. 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326. Am J Med Genet. 1989. PMID: 2658591 Review.
A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. ...A unique ultrastructural alteration of the glomerular basement membrane was …
A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehea …
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K. Walczak-Sztulpa J, et al. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, telecanthus, broad nasal bridge, low-set ears, sparse hair, and widely space teeth. ...(Arg113*) and a missense p.(Asp841Val …
Dysmorphic features included short stature with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, ep …
35 results