نتایج جستجو برای: skeletal anomalies

تعداد نتایج: 142028  

Journal: :Indian journal of ophthalmology 1992
A Sharma H Singh

OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...

Journal: :Medical ultrasonography 2015
Edward Araujo Júnior Liliam Cristine Rolo Gabriele Tonni Sina Haeri Rodrigo Ruano

We present our experience in the contribution of three-dimensional ultrasonography, using the rendering mode, to the prenatal diagnosis of congenital anomalies including neurological defects (acrania/anencephaly, encephalocele, holoprosencephaly), facial anomalies (cyclopia and facial clefts), abdominal wall defects (omphalocele and gastroschisis) and defects of extremities (fetal muscle-skelet...

2013
Saad Rustum Thomas Rodt Omke Teebken Claudia Schrimpf Thomas Aper Mathias Wilhelmi

A thoracic outlet syndrome (TOS) is caused by arterial or nervous obstruction because of skeletal or muscular anomalies and hypertrophies. Congenital rib anomalies occur with low incidences (0.15-0.31%), predominantly affect the right side and are normally diagnosed at a young age or remain asymptomatic throughout life. Here, we report on the unusual case of a 71-year-old female patient with su...

Journal: :Human reproduction 2009
G M Tiboni F Marotta A P Castigliego C Rossi

BACKGROUND The aromatase inhibitor, letrozole, exerts embryo toxic effects in rats, causing increased embryo lethality and anomalies of the axial skeleton at pharmacologically relevant doses. Letrozole acts by inhibiting estrogen biosynthesis. It may thus be feasible that estrogen deprivation is a crucial determinant of the elicited developmental toxic effects. In order to gain insight on this ...

Journal: :journal of dentistry, tehran university of medical sciences 0
h afshar associate professor, dental research center and department of pediatric dentistry, tehran university of medical sciences, tehran, iran. m daneshpazhooh a kiani p aref z baniameri

incontinentia pigmenti (ip) is an x-linked dominant genodermatosis characterized by typical skin lesions along blaschko's lines and associated with ocular, dental, nails, hair, skeletal, central nervous system and cardiovascular anomalies. we report a 5-year-old boy with cutaneous hyperpigmentation along blaschko's lines, atrophic streaks, strabismus and mental retardation. he showed the charac...

Journal: :the journal of tehran university heart center 0
mohammad yousef aarabi moghaddam shaheed rajaei cardiovascular medical and research center, iran university of medical sciences, tehr hojatollah mortezaian shaheed rajaei cardiovascular medical and research center, iran university of medical sciences, tehr seyed reza miri shaheed rajaei cardiovascular medical and research center, iran university of medical sciences, tehr

cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran ; only a few ca...

Journal: :Journal of medical genetics 1992
D Viljoen P Beighton

Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.

Journal: :Journal of medical genetics 1993
C E de Die-Smulders R P Droog M van Dijk J P Fryns

A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.

Journal: :International braz j urol : official journal of the Brazilian Society of Urology 2006
Suzana G Moraes G Guerra-Junior A T Maciel-Guerra

Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.

Journal: : 2021

The omphalocele-exstrophy vesicalis-imperforated anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias and multisystem anomalies involving gastrointestinal, genitourinary, skeletal systems. number patients who have OEIS do not terminate their pregnancy small. We present prenatal postnatal radiological images patient diagnosed with at twentieth gestational week.

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