𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma

✍ Scribed by Rika Kosaki; Hideki Fujita; Hazuki Takada; Michiyo Okada; Chiharu Torii; Kenjiro Kosaki

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
118 KB
Volume
155
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

Rubinstein-Taybi syndrome (RTS) is characterized by broad thumbs and toes, downward slanted palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, a hypoplastic maxilla with a narrow plate, thick eyebrows, long eyelashes, a short stature, and moderate intellectual disability [Hennekam, 2006]; its incidence is estimated to be 1 in 100,000. Most cases are sporadic, and about half of all cases have a heterozygous mutation in the CREBBP gene; rare cases have a heterozygous EP300 mutation. Both genes encode histone acetyltransferases (HAT), which are transcriptional co-activators that play critical roles in epigenetic regulation through histone acetylation [Roelfsema and Peters, 2007]. Among the more than 600 cases of RTS reported to date, at least 11 sets of monozygotic twins [

📜 SIMILAR VOLUMES

Monozygotic twins discordant for the Rus
Monozygotic twins discordant for the Russell-Silver syndrome
✍ Samn, Michael ;Lewis, Kathleen ;Blumberg, Bruce 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## Abstract Russell‐Silver syndrome is a disorder of unknown cause. A number of familial cases have suggested autosomal dominant inheritance. We report on monozygotic twins discordant for the Russell‐Silver syndrome. Our findings suggest that the cause of Russell‐Silver syndrome is not explained en

Two pairs of male monozygotic twins disc
Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome
✍ Leonard, N. J.; Bernier, F. P.; Rudd, N.; Machin, G. A.; Bamforth, F.; Bamforth, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To dat

Monozygotic twins discordant for the maj
Monozygotic twins discordant for the major signs of McCune-Albright syndrome
✍ Endo, Machiko ;Yamada, Yutaka ;Matsuura, Nobuo ;Niikawa, Norio 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 496 KB 👁 2 views

We describe a girl, one of monozygotic (MZ) twins, with endocrine dysfunction with precocious puberty, cafe-au-lait nevi and polyostotic fibrous dysplasia (PFD), McCune-Albright syndrome (MAS). After treatment with cyproterone acetate for 7 years the precocious puberty and excess growth improved but