Congenital Aphakia (Turkish) Oto-Noro-Oftalmojoli (Turk) 2, 43 (1947) Ref. Klin. MN. Augenheilk 117, 428 (1950). 8. TOUFESCO, S.: Note on congenital aphakia (French) Ann. Oculist (Paris) 132, 107-117 (1904). 9. [ijo.in]

Two CYP1B1 mutations detected in our patients (p.G61E and p.A1195) had an established pathogenicity. 12 As for the L432V, the literature is inconclusive about its pathogenic role as this mutation has been detected in normal Turkish and Japanese populations [dovepress.com]

septal defect (略 ASD) 【心房粘液腫】*atrial myxoma 【心膜炎】*pericarditis (唇) 【唇外反】*eclabium 【唇顎口蓋裂】*cheilognathopalatoschisis 【唇顎裂】【唇顎披裂】*cheilognathoschisis 【唇発育不全】*atelocheilia 【唇裂】*cleft lip *cheiloschisis ( 口唇裂) (真) 【真菌感染症】【真菌症】*fungal disease/*fungus disease [medo.jp]

Facial hirsutism has also been described (2). Ocular features: i. [fetalultrasound.com]

多発性粘膜神経腫】*multiple mucosal neuroma 【多発性脳梗塞】*multiple cerebral infarction 【多発性脳神経炎】*cranial polyneuritis 【多発性嚢胞】*multiple cysts[pl] 【多発性麻痺】*polyplegia 【多脾症】*polysplenia 【多病】*polypathia 【多病巣性運動神経症】*multifocal motor neuropathy 【多尿症】*polyuria 【多毛症】*pilosis *hirsutism [medo.jp]

Duplication 3q syndrome (3q21-ter dup) Learning difficulties, growth deficiency, hypertrichosis, craniosynostosis, cardiac defects, chest deformities, genital abnormalities, umbilical hernia 4p- (Wolf-Hirschhorn syndrome) Growth deficiency, microcephaly [ojrd.biomedcentral.com]

The patient exhibited iridodonesis, nystagmus, displacement of pupil and aphakia in both eyes. SEZER [7] described connatal aphakia with iridodonesis and hyperopia of 13 dioptres in otherwise normal eyes of a 12 year old girl. [ijo.in]

spaced nipples Diastasis recti, Umbilical and inguinal herniae Dwarfism Syndrome: With ocular abnormalities: · SHORT (short stature, articular hyperextensibility, inguinal herniae, ocular Rieger's anomaly, dentition delay: autosomal-dominant disease) [fetalultrasound.com]

Craniofacial features: i. round face in infancy, ii. a prominent forehead (70%), iii. hypertelorism (76%), iv. narrow palpebral fissures (79%), v. a long philtrum (91%), vi. cupid's bow upper lips with a thin vermillion border (98%). vii. cleft lip occurs [fetalultrasound.com]

X-Ray Chest-Heart size was enlarged and showed signs of left ventricular hypertrophy. Comments Many cases of congenital aphakia have been reported in the literature. [ijo.in]

hypertrophy 【左心低形成症候群】*hypoplastic left heart syndrome (略 HLHS) (錯) 【錯角化症】*parakeratosis 【錯書症】*paragraphia *paralexia 【錯聴症】*paracusia/*paracusis ( 聴覚性錯覚) 【錯文法】*paragrammatism 【錯味症】*parageusia 【錯論理症】*paralogia (作) 【作動不全】*dysergia (三) 【三角頭】*trigonocephaly [medo.jp]