๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia

โœ Scribed by Pierri, Nicola Brunetti; Lecora, Margherita; Passariello, Annalisa; Scala, Iris; Andria, Generoso


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
12 KB
Volume
91
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(20000313)91:2<123::aid-ajmg8>3.0.co;2-n

No coin nor oath required. For personal study only.

โœฆ Synopsis


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. Am.


๐Ÿ“œ SIMILAR VOLUMES


Bilateral radial ray hypoplasia with mul
โœ Eddy, Mark C.; Steiner, Robert D.; McAlister, William H.; Whyte, Michael P. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 25 KB ๐Ÿ‘ 2 views

We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal dysplasia (MED). Radial ray hypoplasia was diagnosed at birth. MED was documented at age 4-3/12 years when she presented with leg pain and short stature and was found to have fem

Oral-facial-digital syndrome with hypoth
โœ Fujiwara, Ikuma; Kondo, Yoshiaki; Iinuma, Kazuie ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB ๐Ÿ‘ 1 views

We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydroneph

Familial lissencephaly with cleft palate
โœ Kerner, Berit; Graham, John M.; Golden, Jeffrey A.; Pepkowitz, Samuel H.; Dobyns ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 24 KB ๐Ÿ‘ 2 views

Lissencephaly is a brain malformation characterized by absence of gyral formation, resulting in a smooth brain surface. Histologic study shows severe anomalies of cerebral cortical development. Several lissencephaly syndromes have been described. Here we report a familial syndrome of lissencephaly,

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

Tetraphocomelia and bilateral cleft lip
โœ Urban, Maik; Rogalla, Patrik; Tinschert, Sigrid; Krietsch, Peter ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 57 KB ๐Ÿ‘ 2 views

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 hist

Splenogonadal fusion limb defect syndrom
โœ Bonneau, Dominique; Roume, Joelle; Gonzalez, Marie; Toutain, Annick; Carles, Dom ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 121 KB ๐Ÿ‘ 1 views

Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD