Costello syndrome

Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review

“…These include prenatal overgrowth and postnatal failure to thrive, physical appearance consistent with a storage disorder, occasional hepatosplenomegaly, cataracts, heat intolerance and increased sweating, hypertrophic cardiomyopathy with valve dysfunction, and delayed bone age. Acanthosis nigricans has been reported in several patients [Der Kaloustian et al, 1991;Martin and Jones, 1991;Di Rocco et al, 1993;Teebi and Shaabani, 1993;Torrelo et al, 1995], including our own. This further supports the metabolic nature of the disease.…”

“…Recently additional cases [Borochowitz et al, 1992;Di Rocco et al, 1993;Patton and Baraitser, 1993;Philip and Mancini, 1993;Say et al, 1993;Teebi and Shaabani, 1993;Zampino et al, 1993;Fryns et al, 1994;Davies and Hughes, 1994;Okamoto et al, 1994;Vila-Torres et al, 1994;Czeizel and Tìmà r, 1995;Umans et al, 1995;Torrelo et al, 1995;Johnson et al, 1998;Kerr et al, 1998;van Eeghen et al, 1999] with Costello syndrome have been reported (Table I).…”

“…(Anal) patient 2 1.5 yrs (Anal) 17 mths, ganglioneuroblastoma Di Rocco et al, 1993 5 yrs 5 yrs (Nasal) Teebi and Shalabani, 1993 18 mths Say et al, 1993 6 mths (limbs) ? (Laryngeal) Okamoto et al, 1994 7 yrs Fryns et al, 1994 6 yrs (Perianal) 12 yrs (Nasal) Davies et al, 1994 10 yrs (Lower eyelid) Vila-Torres et al, 1994 6 yrs 7 yrs (Nasal, neck) Torrelo et al, 1995 Birth birth (Nasal, perioral) Suri et al, 1998?, vestibular schwannoma Johnson et al, 1998: patient 1 9 yrs (Nasal) patient 2 teens (Nasal, facial) patient 3 Kerr et al, 1998: patient 1 patient 2 2 yrs, embryonal rhabdomyosarcoma 3 yrs, embryonal rhabdomyosarcoma Our case 2 yrs 11 yrs (Gingival) 12 yrs, carcinoma (Bladder)…”

The genetics of hair shaft disorders

“…[259][260][261][262][263] There is also an increased risk of developing solid tumors, such as rhabdomyosarcoma, neuroblastoma, and transitional cell carcinoma. Twisting of the hair shaft has been demonstrated by light microscopy.…”

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

“… 1 Costello et al ., 1977 and Costello et al ., 1996; Der Kaloustian et al ., 1991; Martin and Jones, 1991; Borochowitz et al ., 1992; Teebi et al ., 1993; DiRocco et al ., 1993; Izumikawa et al .,1993; Kondo et al .,1993; Patton et al ., 1993; Phillip and Mancini, 1993; Zampino et al ., 1993; Say et al ., 1993; Yoshida et al ., 1993; Davies et al ., 1994; Okamoto et al ., 1994; Fryns et al ., 1994; Torres et al, 1994; Umans et al ., 1994; Torrelo et al, 1995; Mori et al ., 1996; Fukao et al ., 1996; Johnson et al ., 1998; Pratesi et al ., 1998; Tomita et al, 1998; Siwik et al ., 1998; Franceshini et al, 1999; Szalai et al , 1999; van Eeghen et al, 1999; Bisogno et al ., 1999; Innes and Chudley, 2000; Moroni et al ., 2000; Sigaudy et al ., 2000; Hatamochi et al ., 2000; Boente et al, 2001; Gripp et al, 2002; Kaji et al ., 2002; Kamoda et al ., 2002; van den Bosch et al ., 2002; Urakami et al ., 2002; Kawame et al, 2003; Delrue et al, 2003; Mancini et al ., 2003; DiRocco et al ., 2003; Nasca et al, 2003; Cakir et al ., 2004; Waldburg et al ., 2004; Dickson et al, 2004; Gregersen et al ., 2004; Stein et al, 04; Hinek et al, 2005; Alexander et al ., 2005; White et al ., 2005. 2 Lin et al ., 2008 represented the compilation of Gripp et al ., 2006 and Estep et al, 2006; Kerr et al ., 2006; Steens et al, 2006; Zampino et al, 2006; Digilio et al ., 2007; Limongelli et al ., 2007; Denayer et al ., 2007; Lo et al ., 2008; Hou et al ., 2008; Gripp et al, 2008. 3 Case reports in the literature who were later included in extensive reviews were generally reported only in Group II, e.g. patients 1 and 3 in Zampino et al , 1993 were also patients CS-01 and CS-04 in Zampino et al, 2006).…”