Facio‐cutaneous‐skeletal syndrome: New nosological entity or Costello syndrome?

Borochowitz, Zvi; Pavone, Lorenzo; Mazor, Galia; Rizzo, Renata; Dar, Hanna

doi:10.1002/ajmg.1320470208

Cited by 15 publications

(8 citation statements)

References 5 publications

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“…), all were described as having typical Costello syndrome, with the exception of the five facio-cutaneousskeletal syndrome patients [Borochowitz et al, 1992[Borochowitz et al, , 1993 and the CFC syndrome patient [Bisogno et al, 1999]. At least six of eight key manifestations (poor growth, developmental delay/mental retardation, typical facial appearance, lax joints, sparse and curly hair, loose skin, papilloma, and deep creases) were present in 24 of 27 new patients and 66 of 67 literature cases.…”

Section: Resultsmentioning

confidence: 94%

Further delineation of cardiac abnormalities in Costello syndrome

et al. 2002

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We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality was found in 59 (63%) patients, with each of three categories occurring in approximately one-third of patients. A cardiovascular malformation (CVM) was noted in 30%, typically pulmonic stenosis (46% of those with a CVM). Cardiac hypertrophy was reported in 34%, which involved the left ventricle in 50% and was usually consistent with classic hypertrophic cardiomyopathy (HCM). A variety of rhythm disturbances were reported in 33%. Most (74%) were atrial tachycardia that was reported as supraventricular, chaotic, multifocal, or ectopic. Of 31 patients with a rhythm abnormality, 22 (68%) had an additional abnormality, i.e., CVM (4), cardiac hypertrophy (12), or both (6). Nine patients had isolated dysrhythmia, five (56%) of whom died. All of the 12 (13%) patients who died had a cardiac abnormality. One patient died of embryonal rhabdomyosarcoma, but in the remainder, a cardiac cause of death could not be disproved. All patients with Costello syndrome need a baseline cardiology evaluation with echocardiography and Holter monitoring. Additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule.

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Section: Resultsmentioning

confidence: 94%

Further delineation of cardiac abnormalities in Costello syndrome

et al. 2002

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“…Additionally, the skin manifestations in the CFC syndrome are mostly limited to eczema, ichtyosis, and sometimes hyperkeratosis, as opposed to redundant and dark skin, papillomata, hyperkeratosis, deep palmar and plantar creases, and acanthosis nigricans seen in Costello syndrome patients. Redundant skin has been observed in CFC patients, but not at the palms or soles [Neri et al, 1987;Sorge et al, 1989;Chrzanowska et al, 1989;Borochowitz et al, 1993;Der Kaloustian, 1993;Teebi, 1993].…”

Section: Geneticsmentioning

confidence: 99%

Costello syndrome: Report and review

Eeghen

Gelderen²,

Hennekam

1999

Am. J. Med. Genet.

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We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.

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“… 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).…”

Section: Figurementioning

confidence: 99%

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

et al. 2009

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Objective Delineate prenatal features of Costello syndrome (caused by HRAS mutations) which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition. Methods Literature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases). Results Polyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17), advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in 9 cases (6 supraventricular or unspecified tachycardia, 1 unspecified arrhythmia, 2 premature atrial contractions, PACs); excluding 3 new cases and 2 with PACs, the estimated prenatal frequency is 4/222 (2%). Conclusion Costello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations, and for maternal treatment of serious fetal arrhythmia.

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Facio‐cutaneous‐skeletal syndrome: New nosological entity or Costello syndrome?

Cited by 15 publications

References 5 publications

Further delineation of cardiac abnormalities in Costello syndrome

Further delineation of cardiac abnormalities in Costello syndrome

Costello syndrome: Report and review

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

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