Markers for Bone Metabolism in a Long-Lived Case of Thanatophoric Dysplasia

Abstract

Abstract.We report a male patient with type 1 thanatophoric dysplasia, now eight years old, having a mutation in the FGFR3 gene. Radiological examination at birth revealed that the ribs and the bones of the extremities were very short and vertebral bodies were greatly reduced in height with wide intervertebral spaces. was delivered after 48 weeks of gestation by Caesarean section. Apgar scores were 7 points at one min and 9 at five min. His birth weight was 2600 g, length 37.0 cm, head circumference 37.0 cm and chest circumference 26.8 cm. His short length, relatively large head, narrow thorax and short extremities were noted. Radiological examination (Fig. la) revealed that the ribs and the bones of the extremities were very short and vertebral bodies were greatly reduced in height with wide intervertebral spaces. The femurs were shaped like French telephone receivers. The mother was 20 years old, and the father 25 years when the patient was born. The parents were healthy and unrelated. There was no family history of skeletal deformity and the two younger siblings of the patient, a sister and a brother, were healthy.Because of respiratory insufficiency due to the narrow thorax, the patient has been intubated and supported by continuous mechanical ventilation

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

“…The age of presentation of AN appears to be mutation-specific and those with the Gly370Cys TD mutation developed AN by age two 4,5, while the earliest presentation for those with the Arg248Cys mutation was age 6 years 7. Seborrheic keratosis appears to be a later dermatological manifestation in TD and was seen in our patient and the 23-year-old individual reported by Nakai et al.…”

“…There are few case reports on TD long-term survivors [2][3][4][5] and they only include those with the type 1 phenotype due to either the Arg248Cys or Gly370Cys mutations in FGFR3. The cerebral cortex is malformed in TD, with features comprising of megaloencephaly, hippocampal dysplasia, polymicrogyria, and can include heterotopias [6].…”

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

“…and Nikkel et al 9 Pokharel et al 10 (case K); Nakai et al 11 Okajima et al 12 Stensvold et al 13 Tonoki 14 Baker et al 5 Katsumata et al 6 and Kuno et al 7 MacDonald et al 8 (patient 1)…”

“…A summary of the medical needs of published longterm survivors with TD can be found in Table 1. [5][6][7][8][9][10][11][12][13][14] Although the number of published individuals living with TD1 are few, knowing the medical decisions and interventions these children required can be helpful when families turn to us for guidance. 15 Respiratory.…”

“…Most patients required tracheostomy, although one described patient utilized long-term endotracheal intubation. 6,7 Several individuals were able to experience brief ventilator-free windows throughout the day; however, there are no published reports before this one of individuals completely weaned off of invasive respiratory support. It is worth noting that one child has been reported to have tolerated periods of time off ventilation, but later developed neurological sequelae, leading to complete ventilator dependence by the end of her second decade.…”