Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

Jutur, Pramod Setty; Kumar, Chandan Pramod; Goroshi, Shetteppa

doi:10.4103/0971-3026.63044

Cited by 4 publications

(8 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Micromelia, narrow thorax, short ribs with or without polydactyly are classified into a group of heterogenous skeletal disorders which includes ATD (Jeune syndrome), chondroectodermal dysplasia (EVC syndrome) and four types of the short-rib polydactyly syndromes (SRPS). 6 These conditions are rare and follows autosomal recessive pattern of inheritance, showing 25% recurrence in the subsequent pregnancies. The incidence of EVC syndrome is 1 per 60,000 in general population while that of ATD is 1 in 1,00,000 to 1,30,000 live births.…”

Section: Discussionmentioning

confidence: 99%

Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach

Agarwal

2019

Ultrasound

View full text Add to dashboard Cite

Introduction Skeletal dysplasia is a condition associated with various abnormalities of the skeleton and comprises multiple groups of disorders. Antenatal ultrasonographic assessment of the skeletal dysplasia requires a robust and systematic assessment of the long bones, fetal thorax, skull, spine, pelvis, hands and the feet. Large number of diseases, their overlapping phenotypic features and the lack of systematic approach lead to diagnostic inefficiency. A precise molecular diagnosis also requires an elaborate antenatal sonographic assessment to reach a final diagnosis. Case report A fetus with micromelia, thoracic dysplasia and polydactyly was detected on prenatal sonography. An algorithmic approach of this rare combination on prenatal sonography is highlighted. Discussion Fetal micromelia is a relatively common entity which can be subclassified into mild and severe types. The lethal nature of the condition requires assessment of the thoracic biometry which may further narrow down the diagnostic possibilities. The red flags or highlighting features of various conditions like polydactyly, hitch-hiker thumb deformity, ovoid tibia and absent fibula may lead to a specific diagnosis. Conclusion A background knowledge of various types of micromelia, their lethal nature, associations and specific features of various differential skeletal dysplasia will always be useful, if employed in a systematic manner.

show abstract

Section: Discussionmentioning

confidence: 99%

Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach

Agarwal

2019

Ultrasound

View full text Add to dashboard Cite

show abstract

“… 1 SRPS types 1 through 4 are lethal in the newborn period because of the severe pulmonary hypoplasia and other associated anomalies. 13 – 15 On the other hand, the EvC syndrome and ATD are not uniformly lethal. 16 , 17 Accurate prenatal diagnosis is important to provide adequate counseling.…”

Section: Discussionmentioning

confidence: 99%

Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates

Ipek

Özmen

2016

Medicine

View full text Add to dashboard Cite

Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. Some of them are perinatally lethal and can be diagnosed at birth. Lethality is usually due to thoracic underdevelopment and lung hypoplasia. A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. A retrospective review of 12 cases of clinico-radiologic diagnosis of skeletal dysplasia, leading to thoracic insufficiency, was conducted.We aimed to make differential diagnosis with special emphasis on radiological findings, and to emphasize the importance of parental counseling.

show abstract

“…Jutur et al . reported the presence of hallux varus deformity in the left foot of the fetus, in addition to a narrow thorax, bilateral enlarged echogenic kidneys, micromelia, bilateral polydactyly and club feet on the ultrasound examination performed at 28 weeks in their case report of short rib polydactyly syndrome–type 2 (Majewski syndrome).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9

Gürel

2014

J of Obstet and Gynaecol

View full text Add to dashboard Cite

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot.

show abstract

Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)

Cited by 4 publications

References 10 publications

Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach

Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach

Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9

Contact Info

Product

Resources

About