Multiple congenital contractures (Congenital multiple arthrogryposis)

Bonilla‐Musoles, Fernando; Machado, Luiz Eduardo; Osborne, Newton G.

doi:10.1515/jpm.2002.012

Cited by 23 publications

(20 citation statements)

References 27 publications

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“…Interestingly, other reports also mentioned prior amniocentesis during the pregnancy where the complication occurred [6]. Fetal mobility is facilitated by increased amounts of amniotic fluid, whereas oligohydramnios and amniotic bands are associated with pulmonary hypoplasia [8] and contractures due to the lack of fetal movements [9]. Increased mobility due to polyhydramnios is associated with a higher incidence of true knots of the umbilical cord [10].…”

Section: Discussionmentioning

confidence: 99%

Intrauterine fetal death after multiple umbilical cord torsion—complication of a twin pregnancy following assisted reproduction

Fleisch

Hoehn

2008

J Assist Reprod Genet

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Background Patients requiring assisted reproductive techniques may have a higher rate of congenital malformations. Some rare complications of pregnancy might be related to such abnormalities. Torsions of the umbilical cord resulting in fetal death have previously been described exclusively in pregnancies following spontaneous conception. Case The case of 37 year old gravida I, para O woman with a twin pregnancy after intracytoplasmatic sperm injection and intrauterine death of one twin at approximately 30 weeks' gestation is presented. The surviving twin was delivered by cesarean section at 31 weeks after spontaneous onset of labor and recurrent fetal bradycardia. The intraoperative situs showed that the demised twin had suffered from multiple umbilical cord torsions leading to intrauterine hypoperfusion. Conclusion Umbilical torsion leading to fetal death might represent a previously unrecognized complication in women requiring assisted reproductive techniques, but this problem is known to occur in pregnancies achieved by natural methods.

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Section: Discussionmentioning

confidence: 99%

Intrauterine fetal death after multiple umbilical cord torsion—complication of a twin pregnancy following assisted reproduction

Fleisch

Hoehn

2008

J Assist Reprod Genet

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“…[8] Although prenatal diagnosis of DA depends upon ultrasound examination in late gestation, radiology and fetoscopy; recently, molecular prenatal diagnosis has been suggested for SHS. [910] Distinguishing among these disorders facilitates clinical management, directs anticipatory guidance, and increases the accuracy of recurrence risk estimates.…”

Section: Discussionmentioning

confidence: 99%

Distal arthrogryposis syndrome

Kulkarni¹,

Panigrahi²,

Ray³

et al. 2008

Indian J Hum Genet

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A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

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“…Mild, isolated AMC may require only splints, physical therapy, or both. In more severe cases, surgery may be required to help mobilize joints [14]. In case of chondrodysplasia punctata, the long-term prognosis depends heavily on the biochemical anomaly that it determines, occasionally there may be a favourable diagnosis and a normal intellect in many cases [15].…”

Section: (27)mentioning

confidence: 99%

Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

et al. 2017

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Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology.

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Multiple congenital contractures (Congenital multiple arthrogryposis)

Cited by 23 publications

References 27 publications

Intrauterine fetal death after multiple umbilical cord torsion—complication of a twin pregnancy following assisted reproduction

Intrauterine fetal death after multiple umbilical cord torsion—complication of a twin pregnancy following assisted reproduction

Distal arthrogryposis syndrome

Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

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