Ulerythema Ophryogenes with Mental Retardation

Navaratnam, A.E.D.; Hodgson, G.A.

doi:10.1177/003591577306600311

Cited by 5 publications

(8 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is characterized by ectodermal abnormalities, characteristic facial appearance, congenital heart defects, growth failure, and mental retardation. In the following years several reports on patients with CFC syndrome have been published and the number is now 56, including these three patients (Navaratnam 1973, Baraitser & Patton 1986, Reynolds et al 1986. Neri et al 1987, Chrzanowska et al 1989, Mucklow 1989, Sorge et al 1989, Gross-Tsur et al 1990, Pierard et al 1990, Bottani et al 1991, Corsello et al 1991, Fryer et al 1991, Matsuda et al 1991, Ades et al 1992, Fryns 1992, Ghezzi et al 1992, Kajii et al 1992, Somer et al 1992, Tumpenny et al 1992, Borradori & Blanchet-Bardon 1993, Dunya et al 1993, Lopez-Range1 et al 1993, Mathews et al 1993, Raymond & Holmes 1993, Young et a].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

1997

View full text Add to dashboard Cite

We report on three patients with probable cardio‐facio‐cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodennal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.

show abstract

Section: Discussionmentioning

confidence: 99%

“…As described by Allanson et al (1985) the face changes with age. Unfortunately, most patients with CFC syndrome have been reported in early life, and there is only one CFC patient in whom the changing phenotype has been documented (Navaratnam 1973, Fryer et al 1991.…”

Section: Discussionmentioning

confidence: 99%

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

1997

View full text Add to dashboard Cite

show abstract

“…First published synoptically, after some editorial surgery, upon evaluation of eight patients by Reynolds et al, 1 it was preceded by at least one report by Navaratnam and Hodgson, 65 who described the entity ulerythema ophryogenes in patients who obviously had what is now known as the CFC syndrome.…”

Section: Historical Colophonmentioning

confidence: 99%

The cardiofaciocutaneous syndrome

Roberts

Allanson

Jadico

et al. 2006

Journal of Medical Genetics

224

228

View full text Add to dashboard Cite

“…Prior to 1986, cases of CFC syndrome were reported as variants of Noonan or Costello syndromes, the main differential diagnoses [Navaratnam, 1973; Cantú et al, 1982; Bottani et al, 1991; Fryer et al, 1991; Krajewska‐Walasek et al, 1996]. Between 1986 and 2002, the diagnosis was based on clinical observations.…”

Section: Introductionmentioning

confidence: 99%

“…Histopathologic studies of CFC syndrome are very few. However, all have focused on skin and/or hair [Navaratnam, 1973; Verloes et al, 1988; Graham et al, 1989; Piérard et al, 1990; Somer et al, 1992; Borradori and Blanchet‐Bardon, 1993]. No autopsy studies have been reported, but morphological anomalies are very important in elucidating the underlying pathophysiology.…”

Section: Introductionmentioning

confidence: 99%

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

Manci

Martínez

Horenstein

et al. 2005

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7‐year‐old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low‐set, posteriorly‐rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating–remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed. © 2005 Wiley‐Liss, Inc.

show abstract

Ulerythema Ophryogenes with Mental Retardation

Cited by 5 publications

References 2 publications

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Cardio‐facio‐cutaneous (CFC) syndrome — a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

The cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: An autopsy study

Contact Info

Product

Resources

About