Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not [genedx.com]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

The pattern of these features is important when a physician tries to make a formal diagnosis. In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. [nfed.org]

Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more. [books.google.de]

Feeding issues, weight deficits, and failure to thrive can be seen in affected infants and children. [clinicaladvisor.com]

Cardiofaciocutaneous syndrome 0 *Ectodermal Dysplasia *Failure to Thrive *Heart Defects, Congenital *Facies. more... [reference.md]

At 15 months of age, he was referred to the hospital because of failure to thrive (weight 7200 g, below the 3rd centile; length 70 cm, below the 3rd centile; head circumference 43 cm, below the 3rd centile). [jmg.bmj.com]

Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness. [ijdvl.com]

Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. [bioline.org.br]

2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe [ncbi.nlm.nih.gov]

It is characterized by erythrokeratodermia, sensorineural deafness, vascularizing keratitis, alopecia and palmoplantar hyperkeratosis. [pesquisa.bvsalud.org]

[…] syndrome Lactic acidosis Leukonychia Lipodystrophy, intellectual disability, deafness syndrome Low frequency deafness Medication non-adherence due to hearing impairment MEDNIK syndrome Microtia Mid frequency deafness Mild acquired hearing loss Mild to [icdlist.com]

BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. [abcam.com]

The skin features of Bart-Pumphrey syndrome include hyperkeratotic plaques over knuckles and the dorsal digital joints (knuckle pads), leukonychia (white nails) and palmoplantar keratoderma. [genedx.com]

KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. [abcam.com]

She was diagnosed as having KID syndrome at the age of 10 years, based on the triad of characteristic skin lesions, hearing problems and keratitis. [medicaljournals.se]

Pediatrics 1999, 103, 3:546 Back to top Del Castillo et al 2002 A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. [davinci.crg.es]

Cheng More than 28 million people have hearing impairments. The most common form of hearing loss is sensorineural damage, otherwise known as nerve deafness. [body1.com]

BRIEF REPORT — CASE REPORT Abstract The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. [link.springer.com]

Ectrodactyly of the right foot was noted and transient evoked otoacoustic emission screening indicated hearing impairment. Further examinations were at first declined by the mother. [jmg.bmj.com]

Abstract Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about I in 1,000 children 1. [nature.com]

Access full-color images and 65 online-only topics at Expert Consult, as well as online-only contents including EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms. [books.google.de]

[…] sensorineural hearing loss was suggested to be autosomal recessive. 1 Bixler et al. 4 have reported two cases of ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome and suggested an autosomal dominant inheritance with incomplete penetrance for [jpma.org.pk]

None had clinical features of pseudohypoparathyroidism or any suggestion of branchial-arch dysgenesis, 8 and all had normal x-ray films of the hands and normal T-lymphocyte subgroups. [nejm.org]

We accordingly suggest initiating chromosomal and molecular investigations of this chromosomal region when growth retardation and microcephaly is present in patients with SHFM. [jmg.bmj.com]

A family with p.Asp50Asn mutation was suggestive of germinal mosaicism, as the parent was clinically normal [ 16 ]. [bmcmedgenet.biomedcentral.com]