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326 Possible Causes for Frontal Bossing, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] bossing.[invitae.com] Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] bossing and antimongoloid lid slanting.[disorders.eyes.arizona.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] Retinal pigment epithelial atrophic changes were documented in two (11%) patients with MPS IH Hurler, five (56%) patients with MPS IH/S Hurler/Scheie ( Figure 4 ), and two[nature.com]

  • Spondylocarpotarsal Synostosis

    Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this[ncbi.nlm.nih.gov] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net] , CONGENITAL, VERTEBRAL FUSION WITH CARPAL COALITION Classification bone, developmental, genetic Phenotypes Abnormality of pelvic girdle bone morphology ; Abnormality of retinal[mousephenotype.org]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] Most infants have a peculiar craniofacial dysmorphology with frontal bossing, large fontanels, and wide set eyes.[disorders.eyes.arizona.edu] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov]

  • Aarskog-Scott Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Craniofacial findings included relative macrocephaly (OFC 55 cm; 90th percentile), frontal bossing, hypertelorism (inner canthal distance 3.5 cm; 97th percentile – outer canthal[doi.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

  • Gorlin Syndrome

    […] anomalies include retinal detachment, retinal hole, retinal tear, retinoschisis, epiretinal membrane, macular hole, and combined hamartoma of the retina and retinal pigment[eyewiki.aao.org] bossing, cleft lip or hypertelorism Sprengel deformity, pectus excavatum or pectus carinatum, syndactyly bridging of the sella turcica, hemivertebrae, flame shaped osseous[radiopaedia.org] […] or ulcerated and crusted surface were observed on the face and trunk ( Fig. 1 ).[pubmedcentral.nih.gov]

  • Gardner Syndrome

    BACKGROUND: It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial[ncbi.nlm.nih.gov] bossing and antimongoloid lid slanting.[disorders.eyes.arizona.edu] Epidermoid cysts commonly occur on the back, face, and chest, and communicate with the skin through a small, round, keratin-filled plug ( Figure 17 ).[aafp.org]

  • 3M Syndrome Type 1

    This finding is not present at birth, but may be seen within the first 4 years of life, and typically manifests as patches of retinal pigment epithelium atrophy around the[eyewiki.aao.org] Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular facies with frontal bossing and depressed nasal bridge, small tongue[ncbi.nlm.nih.gov] Figure 1 Facial and skeletal features of patient no. 14 at 3 years of age. ( a ) Note the round face, frontal bossing, short nose and full lips. ( b ) Note tall vertebral[doi.org]

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