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329 Possible Causes for Polyhydramnios, Pulmonary Hypoplasia and Dysplasia

  • Hypophosphatasia

    Antenatal determinants of lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia.[e-ultrasonography.org] Review of pregnancy history may reveal polyhydramnios . Skeletal manifestations of the severe cases vary widely among patients.[emedicine.medscape.com] Guguloth, Aswani, and Anandpara: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography Abstract Congenital hypophosphatasia is a rare fatal skeletal dysplasia[e-ultrasonography.org]

  • Tracheal Agenesis

    hypoplasia associated with renal dysplasia, and in cases 2 and 3, that grossly enlarged, hyperplastic lungs may not be seen unless obstruction is complete.[ncbi.nlm.nih.gov] The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios.[ncbi.nlm.nih.gov] Clinical features that might indicate tracheal agenesis include antenatal polyhydramnios, severe respiratory distress, absence of an audible cry, failure to advance an endotracheal[ncbi.nlm.nih.gov]

  • Hydrops Fetalis

    The cyst impeded the inferior vena caval and umbilical venous circulations and impinged upon the thoracic cavity with resultant pulmonary hypoplasia.[ncbi.nlm.nih.gov] We evaluated outcomes of fetal or neonatal death and preterm birth (PTB) in cases of NIHF alone and in those with polyhydramnios and/or placentomegaly (P/PM).[ncbi.nlm.nih.gov] In this large, population-based study, prematurity, polyhydramnios, and large for gestational age were predictors of increased mortality.[ncbi.nlm.nih.gov]

  • Hypoplastic Kidney

    Approximately 50% of babies with bilateral renal dysplasia or agenesis die before the age of 3 years due to pulmonary hypoplasia and/or renal compromise.[clinicaladvisor.com] Prenatal ultrasound showed polyhydramnios, suspicion of agenesis of corpus callosum, and small right kidney in the fetus.[ashg.org] Any disease that impairs urine production causes oligohydramnios, whilst diseases that impair fetal swallowing, such as oesophageal atresia and anencephaly, cause polyhydramnios[patient.info]

  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

    Syndactyly Bowing of the long bones Pulmonary hypoplasia Renal dysplasia Atrial septal defect Intrauterine growth retardation Microcephaly Abnormal internal genitalia Cystic[mendelian.co] Like Sotos syndrome, overgrowth starts prenatally during the latter half of pregnancy, being accompanied by polyhydramnios .[bredagenetics.com] Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain 2007;130:1929–41. [43].[journals.lww.com]

  • Biemond Syndrome Type 2

    Syndactyly Bowing of the long bones Pulmonary hypoplasia Renal dysplasia Atrial septal defect Intrauterine growth retardation Microcephaly Abnormal internal genitalia Cystic[mendelian.co] […] urinary tract infections Scarring Vesicoureteral reflux Nephrotic syndrome Hydronephrosis Muscular hypotonia of the trunk Abnormality of the genital system Constipation Polyhydramnios[mendelian.co] Encephalocele Hand polydactyly Rare Symptoms - Less than 30% cases Hypoplasia of the corpus callosum Microphthalmia Hepatic fibrosis Dandy-Walker malformation Premature birth Polyhydramnios[mendelian.co]

  • Cloacal Exstrophy

    Category I patients have urethral obstruction, pulmonary hypoplasia, oligohydramnios, renal dysplasia, and Potter’s facies.[radiologykey.com] Polyhydramnios was present in four of the six cases.[ncbi.nlm.nih.gov] These patients are among the most seriously affected group and usually suffer an early death from pulmonary hypoplasia.[radiologykey.com]

  • Skeletal Dysplasia

    Further, the proposita's only pregnancy ended in the delivery of a fetus manifesting a lethal short-limbed dwarfism with pulmonary hypoplasia, strongly suggestive of an undiagnosed[ncbi.nlm.nih.gov] Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation.[ncbi.nlm.nih.gov] Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck.[ncbi.nlm.nih.gov]

  • Bilateral Multicystic Dysplastic Kidney

    Approximately 50% of babies with bilateral renal dysplasia or agenesis die before the age of 3 years due to pulmonary hypoplasia and/or renal compromise.[clinicaladvisor.com] The prenatal ultrasound showed bilateral MCDK and polyhydramnios (amniotic fluid index 290 mm) in Fetus 57 and enlarged kidneys (left kidney measuring 26 15 14 mm, right kidney[academic.oup.com] hypoplasia If blastema present, patient is at a slightly higher risk for Wilms tumor Segmental dysplasia is seen in children with duplex (duplicated) kidney (incomplete fusion[pathologyoutlines.com]

  • Asphyxiating Thoracic Dysplasia

    […] asphyxiating thoracic dysplasia – summary synonyms JATD Jeune Syndrome Short-rib thoracic dysplasia 2, 3, 4, 5, 8, 9, 10, 11 main symptoms short ribs thoracic dysplasia pulmonary[neocyst.de] The formation of polyhydramnios is discussed.[ncbi.nlm.nih.gov] We describe prenatal sonographic examinations in the third trimester of a fetus with abnormal small thorax, short limbs, polyhydramnios, and absence of fetal respiratory movements[ncbi.nlm.nih.gov]

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