Rubinstein-Taybi syndrome in the Netherlands

Abstract

This study reports the physical and radiographic characteristics of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthesia.

Rubinstein Taybi Syndrome with Hepatic Hemangioma

“…Our patient had multiple renal stones, but more data are needed to explain the mechanism of renal stones in RTS and establish an association between renal stones and the syndrome [2,3] .…”

“…Molecular mutations and microdeletions of chromosome 16p13.3 have been shown in some patients with RTS, but the diagnosis of RTS is made primarily by the clinical features as mutational analysis is not always positive for a gene deletion [2][3][4][5] . We diagnosed our patient according to the characteristic clinical features.…”

“…Gastroesophageal reflux and feeding problems are common in RTS and can lead to inadequate intake of calories [2,3] . Our patient also had feeding difficulties, and hence, a specific calorie-rich diet was prepared for him.…”

Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

“…TABLE I. Conditions known to be associated with prominent fetal pads [Niikawa et al, 1982;Thompson et al, 1987;Teebi et al, 1989;Hennekam et al, 1990;Romano et al, 1994;Lo et al, 1998;Lukusa and Fryns, 1998;Wilson, 1998;Bertola et al, 1999;de Vries et al, 2000;Forrester et al, 2001;Lukusa et al, 2001;Galan-Gomez et al, 2004;Grossfeld et al, 2004;Oudesluijs et al, 2005;Prescott et al, 2005;Salpietro et al, 2005;Tyson et al, 2005;Lalani et al, 2009;Reddy et al, 2009;Shimojima et al, 2009]. …”

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…Descriptions typically include a prominent 'beaked' nose, eyes with downward slanting palpebral fissures, long eyelashes, thick eyebrows, and a small mouth (Hennekam, 2006;Hennekam, Van Den Boogaard, Sibbles & Spijker, 1990b;Rubinstein, 1990;Stevens et al 1990a;Wiley, Swayne, Rubinstein, Lanphear & Stevens, 1990). Allanson (1990) reviewed those with the diagnosis of various ages and provided evidence for a changing facial phenotype.…”