๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]

โœ Scribed by Urban, Maik; Rogalla, Patrik; Tinschert, Sigrid; Krietsch, Peter


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
57 KB
Volume
72
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971031)72:3<307::aid-ajmg11>3.0.co;2-x

No coin nor oath required. For personal study only.

โœฆ Synopsis


We discuss an unlabelled specimen of tetraphocomelia and bilaterally cleft lip from the former Virchow Museum of our Medical School. Identity of the subject with a case of what was later termed "Roberts syndrome" published by Rudolf Virchow in 1898 is demonstrated. Rediscovery of this important historical case is gratifying, since almost 95% of the specimens of Virchow's collection were lost during World War II. We have restudied Virchow's case. Recent CT scan images of the fetus are presented. We review data from the literature and present new clinical details. The fate of the original clinical data after passing through three reviews is documented briefly. We also reconstruct Virchow's view on phocomelia and its consequences for later research.


๐Ÿ“œ SIMILAR VOLUMES


Bilaterally cleft lip, limb defects, and
โœ Urban, Maik; Opitz, Charlotte; Bommer, Christiane; Enders, Herbert; Tinschert, S ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 33 KB ๐Ÿ‘ 2 views

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with norm

New case of bilateral upper limb amelia,
โœ Pierri, Nicola Brunetti; Lecora, Margherita; Passariello, Annalisa; Scala, Iris; ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 12 KB ๐Ÿ‘ 1 views

We report on a male patient with bilateral upper limb amelia, facial clefts, and bilateral renal hypoplasia. We compare the clinical findings in our patient with those of the other three similar cases reported. This is the first long-surviving patient described with this association of malformations

Lower lip pits and anorectal anomalies i
โœ Kokitsu-Nakata, Nancy Mizue; Vendramini, Siulan; Guion-Almeida, Maria Leine ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 1 views

We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by F

Clinical and molecular analysis in Joube
โœ Pellegrino, Joan E.; Lensch, M. William; Muenke, Maxmilian; Chance, Phillip F. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 2 views

Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome