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108 Possible Causes for Brushfield Spot, Short Stature in Children

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[] Short stature as the major manifestation of celiac disease in older children. Clin Pediatr 1986; 25:13–6. 12. Rossi TM, Kumar V, Lerner A, et al.[] Results: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels[]

  • Zellweger Syndrome

    We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[] Ophthalmologic Manifestations corneal clouding Brushfield spots cataracts glaucoma optic nerve dysplasia pigmentary retinopathy 4.[]

  • Hallermann-Streiff Syndrome

    The irides were blue with subtle Brushfield spots.[] Children often appear petite and short in stature. Developmental delays are common but most individuals have normal or near-normal intelligence.[] Children appear petite and are often short in stature. Scalp hair is thin, especially in the frontal and occipital areas, and the skin is atrophic.[]

  • SHORT Syndrome

    […] on the colored part of the eye (Brushfield spots) Physical development is often slower than normal.[] Short Stature in Children Symptoms Short parents tend to have short children.[] spots) Small ears A small head that's somewhat flat in the back (brachycephaly) Short neck Clinodactyly: A single crease across the palm of each hand (normally there are[]

  • Laron Syndrome

    ., flat foot, occlusal abnormalities, Brushfield spots, cardiac septation defects) (see also [ 36 ]).[] The studies enrolled a total of 71 children suffering from extreme short stature; all children exhibited symptoms of Primary IGFD, including slow growth rates, low IGF-1 serum[] stature homeobox) are an important cause of growth failure in children with short stature.[]

  • Smith-Magenis Syndrome

    Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[] stature curved spine ( scoliosis ) hoarse voice myopia ( short-sightedness ) flat feet.[] Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short[]

  • Trisomy 18

    Eleven (33%) children had a mild to moderate conductive hearing loss, 5 (15%) had sensorineural hearing loss. 9 (27%) had refractive error and 3 (9%) showed Brushfield spots[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[] Most children with short stature have normal variants such as familial short stature, constitutional delay of growth and puberty, or idiopathic short stature.[] The pupils may have light smudgy opaque Brushfield spots.[]

  • Receptive Aphasia

    spots, epicanthic folds, brachycephaly, simian creases Down syndrome Goiter Pendred syndrome Café au lait spots Neurofibromatosis Adenoma sebaceum, shagreen patches, hypopigmented[] With Speech Delay Physical findings Possible etiology Short stature, obesity, hypogonadism Prader-Willi syndrome Microcephaly, macrocephaly Mental retardation, cerebral palsy[] […] retardation, cerebral palsy, hearing loss Deformities of auricle or external ear canal Hearing loss Enlarged pinna, macroorchidism Fragile X syndrome Upward slanting eyes, Brushfield[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[] […] fingers and short stature.[] Will see epicanthal folds, simian crease, brushfield spots in eyes.[]

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