Polysyndaktylie, verk�rzte Gliedma�en und Genitalfehlbildungen: Kennzeichen eines selbst�ndigen Syndroms?

Majewski, F.; Pfeiffer, R. A.; Lenz, W; M�ller, R.; Feil, G.; Seiler, R.

doi:10.1007/bf00446428

Cited by 85 publications

(21 citation statements)

References 7 publications

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“…Therefore while the two cases reported here share most of the manifestations of SRP 2 (including, incidentally, omphalocele, which has been described in this disorder [Majewski et al, 1971, case 3]), the characteristics are insufficiently specific to define whether these two cases are within or outside of the nosologic confines of SRP 2.…”

Section: Discussionmentioning

confidence: 76%

“…Midline clefts of the lip with or without cleft of palate are characteristic of SRP 2, but similar abnormalities have been described in SRP 1 [Gordon and Brown, 1976;Leroy, 19781 and SRP 3 [Naumoff et al, 1977, case 11. And while cystic renal abnormalities are common, at least two of the welldocumented cases [Majewski et al, 1971;Bergstrom et al, 19791 did not have such abnormalities. All of the other clinical nonskeletal changes are either inconstant even within this small group of cases and/or overlap with changes frequently described in SRP 1 and SRP 3.…”

Section: Discussionmentioning

confidence: 94%

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A new short rib syndrome: Report of two cases

Beemer

Langer

Pater³

et al. 1983

Am. J. Med. Genet.

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We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 94%

A new short rib syndrome: Report of two cases

Beemer

Langer

Pater³

et al. 1983

Am. J. Med. Genet.

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“…The distinctive feature suggesting short ribpolydactyly type II was very small tibia, almost oval in shape in the index case. Type 2 SRPS (Majewski syndrome) was first described in 1971 [2]. Considering the limitations of therapy, prenatal diagnosis with selective termination of pregnancy is an important option for couples at risk.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

Kumar

Anand

Jain

et al. 2016

J Obstet Gynecol India

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“…There are four established types: type I (Saldino-Noonan) has narrow metaphyses and a torpedoshaped appearance of the long bones; type II (Majewski) presents with facial cleft and characteristically short, oval tibiae; type III (Naumoff) shows wide metaphyses with spurs, and type IV (Beemer-Langer) resembles the Majewski type with median cleft lip, but the tibiae are not as short, and polydactyly is rare [4][5][6] . All types are inherited in the autosomal recessive mode, but there is considerable overlap in the phenotype as well as in the radiological features [6] .…”

Section: Discussionmentioning

confidence: 99%