Results 101 to 110 of about 16,006 (225)

PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE [PDF]

The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects ...
رفاهی, سهیلا, قره آغاجی, ناهیده, پورعیسی, مسعود   +2 more
core  

TAY-SACHS DISEASE HETEROZYGOTE SELECTION [PDF]

, 1978
PIRACICABA UNIV,FAC MED,DEPT PEDIAT,CAMPINAS,BRAZILUNIV São Paulo,FAC MED,DEPT NEUROL,São Paulo,BRAZILWeb of ...
Diamet, A. J., Nishimura, R., Schmidt, Benjamin Jose, Wakamoto, M.   +3 more
core   +1 more source

Familial Crouzon syndrome

Contemporary Clinical Dentistry, 2010
Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies.
Y Samatha, T Harsha Vardhan, A Ravi Kiran, A J Sai Sankar, B Ramakrishna   +4 more
doaj   +1 more source

Prenatal diagnosis of idic(9) [PDF]

, 2015
Tetrasomy of the short arm of chromosome 9 is a rare chromosome imbalance that may result from a supernumerary isochromosome 9 with the most recurrent breakpoints being 9p10, 9q12 and 9q13.
Correia, H., Cravo, J., Furtado, J., Marques, B., Mourinha, V., Páramos, A.I., Silva, M., Simão, L., Ventura, C.   +8 more
core  

Presbyacusis A Review [PDF]

Life expectancy of Humans is on the rise. World’s human population is aging rapidly. According to a report of US census Bureau nearly 24% of current world population is above the age of 50. This is a phenomenal number.
Balasubramanian, Thiagarajan
core  

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 982-984, April 2026.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Nasal Duplication Combined with Cleft Lip and Palate: Surgical Correction and Long-Term Follow-Up

Plastic and Reconstructive Surgery, Global Open, 2017
Background:. Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods:. The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate.
Kanharith Long, MD, Kazuaki Yamaguchi, MD, Daniel Lonic, MD, Vanna Long, MD, Vuthy Chhoeurn, MD, Lun-Jou Lo, MD   +5 more
doaj   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 985-988, April 2026.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report

Oman Medical Journal, 2012
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic
Josef Finsterer
doaj  

Noonan′s Syndrome

Indian Journal of Dermatology, 1995
Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears.
Yesudian P Devakar, Nambi Rabindranath, Krishnan S.G.S, Jayaraman M, Janaki V.R   +4 more
doaj