Growth and development in thanatophoric dysplasia – an update 25 years later

Abstract

Key Clinical MessageThanatophoric dysplasia is typically a neonatal lethal condition. However, for those rare individuals who do survive, there is the development of seizures, progression of craniocervical stenosis, ventilator dependence, and limitations in motor and cognitive abilities. Families must be made aware of these issues during the discussion of management plans.

Acanthosis nigricans in achondroplasia

“…AN also arises in long term survivors with thanatophoric dysplasia, type 1 secondary to an arg248cys substitution (Baker, Olson, Harding, & Pauli, ; Nikkel, Major, & King, ). In these two instances, it was first diagnosed at 3 years of age (Baker et al, ) and “in her teen years” (Nikkel et al, ). In addition, one person with probable mosaicism for arg248cys has been described in whom moderately severe AN developed beginning in infancy (Hyland et al, ).…”

Displasias esqueléticas: Reporte de un caso y revisión de la literatura

“…Fue descrita por primera vez en 1967 por Maroteaux y Lamy (11).Tanto hombres como mujeres son igualmente afectados. Junto a la acondroplasia, hipocondroplasia y la muy rara acondroplasia severa con desarrollo posterior de acantosis nigricans, pertenece al grupo de las osteocondrodisplasias de tipo 1 (2,6,10,(13)(14)(15). Este grupo de desórdenes es producto de una mutación de novo en el receptor 3 del factor de crecimiento de fibroblastos (FGFR 3), el cual se localiza en el brazo corto del cromosoma 4 y es parte de la familia de los receptores de tirosina cinasa.…”

“…La penetrancia de esta mutación es del 100% (13,16).Normalmente es un regulador negativo del crecimiento óseo y mutaciones puntuales aumentan su actividad enviando señales negativas a las células del cartílago (condrocitos), provocando una desorganización generalizada de la osificación encondral en la placa de crecimiento óseo. Debido a su letalidad esta mutación no pasa a las generaciones siguientes, salvo escasas excepciones (9,15,17,18).…”

“…La DT puede afectar otros sistemas, observándose alteraciones como riñón en herradura, defecto septal atrial, defecto de válvula tricúspide, ano imperforado y sinostosis radiocubital (9,15).…”

Protein‐losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation

“…The most common immediate cause of death is respiratory failure on the basis of pulmonary hypoplasia. Though the natural history of TD culminates in death within a few hours or days of birth, there are increasing number of examples in the literature of patients who have survived beyond the immediate infancy period due to advancement in treatment, and neonatal care [MacDonald et al, ; Baker et al, ; Nikkel et al, ]. Remarkable cases include, a patient who was in her late twenties [Nikkel et al, ] and another child who was 9 year old [Baker et al, ] at the time of report.…”