A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]
, 2012 Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Atlihan, F +6 more
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The Professional Medical Journal, 2010 Polyhydramnios is though an uncommon problem but very distressing for patient. Objectives: To locate the causative factors and neonatal outcome in polyhydramnios. Design: Case series. Setting: Department of Obstetrics and Gynaecology unit 1, Lahore General Hospital, Lahore. Period: From January 2004- December 2005.
SAADIA TARIQ +3 more
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A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
, 2017 Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G +6 more
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Absent ductus venosus: case series from two tertiary centres [PDF]
, 2018 INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops.
Berghella V +5 more
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Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. [PDF]
, 2016 BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings.
Balasubramanian, M. +16 more
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Polyhydramnios and acute renal failure [PDF]
Postgraduate Medical Journal, 1980 Abstract Acute renal failure secondary to ureteric obstruction is described in a primigravida with twin gestation and polyhydramnios. Relief of the obstruction occurred on drainage of the liquor and return to normal renal function following delivery.
D V, Hamilton, M B, Kelly, J S, Pryor
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The Professional Medical Journal, 2017 Background: Polyhydramnios is an obstetrical condition associated withsignificant perinatal and maternal morbidity and mortality. Although it is uncommon conditionbut a source of much discomfort to the patient. Objectives: To determine the maternal andfetal outcome of Polyhydramnios. Study Design: Descriptive cross sectional study.
Maimoona Qadir, Sohail Amir
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Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements [PDF]
, 2010 Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position.
Seiichi Morokuma +4 more
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Complicaciones obstétricas en gestaciones con feto portador de anomalía incompatible con la sobrevivencia neonatal [PDF]
, 2010 OBJECTIVE: To describe the most common obstetric complications encountered during periods of pregnancy, childbirth and puerperium, in pregnancies with fetuses that presented anomalies incompatible with life.
Abrahão, Anelise Riedel +1 more
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Obstetrical aspects in congenital ichtyosis [PDF]
, 2016 We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle +2 more
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