At that time she had a cloudy left tympanic membrane, absence of the retinal red reflex, and a palpable spleen tip. [documents.tips]

Patient 4 was originally referred to our institution for evaluation of recurrent upper respiratory infections and childhood eczema. [documents.tips]

A grade II/ VI blowing diastolic murmur along the left sternal border consistent with aortic regurgitation had been present for several years and was asymptomatic., Pt.1, d l 3 a 1 2 6 s Pt.2 Pt.3 Pt.4 V Fig. 1. Pedigree. [documents.tips]

A grade II/ VI blowing diastolic murmur along the left sternal border consistent with aortic regurgitation had been present for several years and was asymptomatic., Pt.1, d l 3 a 1 2 6 s Pt.2 Pt.3 Pt.4 V Fig. 1. Pedigree. [documents.tips]

A grade UVI systolic ejection murmur was noted on cardiac examination. He had a mild generalized ichthyosiform erythroderma, identical to that of his father and 2 sibs. [documents.tips]

murmur, strabismus Short stature strabismus delay N Cataracts, Total 11/11 11/11 7/11 717 4/11 7/11 7/11 *Abbreviations: CK creatinine kmase; N normal; EMG electromyogram: BX biopsy: ECG electrocardiogram; CNS central nervous system; CSF cerebrospinal [documents.tips]

Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

Ophthalmologic examination showed a variable left esotropia of approximately 30 degrees and nuclear cataracts. [documents.tips]

Diseases related with Sensorineural hearing impairment and Myopathy In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Myopathy that can help you solving undiagnosed cases. [mendelian.co]

Other signs of ichthyosis are: Skin redness Blisters Peeling Itchiness Pain Lines on the palms of the hands and soles of the feet Tight skin that makes it hard to move Many people with ichthyosis also have eczema, a red, itchy rash. [webmd.com]

Ichthyosis vulgaris The skin may appear normal at birth By the age of 5, the skin is dry with fine white scale Affects abdomen, arms and legs, sparing creases of arms and legs Causes keratosis pilaris Palms are excessively lined Associated with atopic eczema [dermnetnz.org]

Patient 4 was originally referred to our institution for evaluation of recurrent upper respiratory infections and childhood eczema. [documents.tips]

nails, sulfur matrix abnormal dentition, protein in hair brittle hair and nails Keratitis, Atypical Keratitis Neurosensory Occ: Mental Tight heel cords Unknown ichthyosis, ichthyosiform retardation deafness ervthroderma Ichthyosis and Neutral Lipid Storage [documents.tips]

He had mild erythroderma with prominence of skin markings (lichenification) and fine, whitish scales involving the entire body surface, including all of the flexures and the face. The facial skin was taut, but frank ectropion was absent. [documents.tips]

Note unusual facial appearance with stabismus, ichthyosis, and mild facial weakness. 716 Williams et a1 Patient 4. The 3rd sib was a 5!h-year-old girl. [documents.tips]

Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

Similar lipid vacuoles are seen in erythroblasts, reticulocytes, tissue macrophages and plasma cells, but not in mature red blood cells, and only rarely in peripheral blood lymphocytes [Slavin et al, 19751. [documents.tips]

ECG N Glycosuria, Abnormal Retinal N ECG dysfunction Retinal N dysfunction N N Vacuolization of GI tract epithelia and endometrium enteropathy intestine epithelia N Gluten-sensitive N N Vacuolization of small Cataracts, Aortic insufficiency corneal opacity [documents.tips]