The phenotype of crf11 mice includes eye defects, variable craniofacial defects, renal agenesis and rectal prolapse. [PDF]
A–C) crf11 mice have a spectrum of eye defects that includes cryptophthalmos and microphthalmia. D) Deviation of the nasal bones (yellow arrow) is an example of the variable craniofacial defects seen in crf11 mice.
Oleg A. Shchelochkov (381761) +10 more
core +1 more source
PubMedID: 7649327In a consanguineous marriage, a woman at 32 weeks' pregnancy presented with intrauterine growth retardation and bilateral renal agenesis.
Aridogan N. +5 more
core +1 more source
Fraser sendromu: İki olgu bildirimi [PDF]
Fraser syndrome (cryptophthalmos syndactyly syndrome) is a rare autosomal recessive disorder. The main features are cryptophthalmos (hidden eye), ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital ...
Kilinç N., Etem H.
core
Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2. [PDF]
Mwipopo E +3 more
europepmc +1 more source
Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report. [PDF]
Dávila Neri I +4 more
europepmc +1 more source
Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and ...
Suzie A Kazaryan, Alejandra A Valenzuela
doaj
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings [PDF]
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks.
Peeters, Hilde +4 more
core
Eyelid malformation in four cockatiels. [PDF]
Four unrelated cockatiels had various degrees of maldevelopment of the eyelids. Only 1 eye of the 8 was normal. The condition had features compatible with ankyloblepharon or cryptophthalmos.
Murphy, CJ +5 more
core
A Rare Case of Fraser Syndrome with Partial Vaginal Agenesis and Its Successful Reconstructive Cosmetic Management: A Case Report. [PDF]
Panigrahi S +4 more
europepmc +1 more source
The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal-Epidermal Junction of Mouse Skin. [PDF]
Esho T +5 more
europepmc +1 more source

