Costello syndrome in two Brazilian children.

The increasing number of children with Costello syndrome described world wide has helped in delineating further the characteristic features of this condition. We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "coarse" face, redundant skin on the feet and hands, hyperextensible hand and finger joints, curly hair, growth and psychomotor retardation, and feeding problems. In addition, one of the patients developed hydrocephalus during the evolution of the disease, making the third published patient with this complication. We discuss the appropriateness of serial brain imaging studies in Costello syndrome in light of the relative frequency of central nervous system malformations.

[1]  K. Gripp,et al.  Costello syndrome. , 2020, American journal of medical genetics.

[2]  A. Czeizel,et al.  Hungarian case with Costello syndrome and translocation t(1,22) , 1995, American journal of medical genetics.

[3]  Y. Fukushima,et al.  Elastic fiber degeneration in Costello syndrome. , 1994, American journal of medical genetics.

[4]  S. Davies,et al.  Costello syndrome: natural history and differential diagnosis of cutis laxa. , 1994, Journal of medical genetics.

[5]  I. Kondo,et al.  The costello syndrome: Report of a case and review of the literature , 1993, Japanese Journal of Human Genetics.

[6]  M. Di Rocco,et al.  Report on two patients with Costello syndrome and sialuria. , 1993, American journal of medical genetics.

[7]  K. Naritomi,et al.  The costello syndrome: A boy with thick mitral valves and arrhythmias , 1993, Japanese Journal of Human Genetics.

[8]  N. Philip,et al.  Costello syndrome and facio-cutaneous-skeletal syndrome. , 1993, American journal of medical genetics.

[9]  A. Teebi,et al.  Further delineation of Costello syndrome. , 1993, American journal of medical genetics.

[10]  G. Neri,et al.  Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. , 1993, American journal of medical genetics.

[11]  M. Patton,et al.  Cutis laxa and the Costello syndrome. , 1993, Journal of medical genetics.

[12]  L. Pavone,et al.  New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. , 1992, American journal of medical genetics.

[13]  K. Jones,et al.  Delineation of the Costello syndrome. , 1991, American journal of medical genetics.

[14]  J. Costello.  A New Syndrome: Mental Subnormality and Nasal Papillomata , 1977, Australian paediatric journal.

[15]  K. Devriendt,et al.  Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome. , 1996, Genetic counseling.

[16]  J. Fryns,et al.  Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. , 1994, Genetic counseling.

[17]  F. Beemer,et al.  New syndrome. , 1982, American journal of medical genetics.

[18]  J. Kaplan,et al.  Cutis laxa and the Costello syndrome , 2022 .