Abstract
IntroductionThe incidence of achondroplasia is very low, and the birth of two or more consecutive babies with achondroplasia to unaffected parents is a rarity. We report a rare case of recurrent achondroplasia in babies of unaffected parents.Case presentationA 29-year-old Nigerian Igbo woman who has had three consecutive dead achondroplastic babies presented at a gestational age of 31 weeks with a two-hour history of drainage of liquor and vaginal bleeding. Neither she nor her husband had features of achondroplasia. Fundal height was compatible with the gestational age. Fetal heart activity was present. An abdominal ultrasound examination showed a viable fetus with short long bones, oligohydramnios, and a fundal placenta with a small retroplacental blood clot. Our patient was stabilized and had an emergency Cesarean section for grade 1 abruptio placentae. A live male baby with Apgar scores of 4 at one minute and 5 at 10 minutes was delivered. The baby had classic features of achondroplasia and died shortly after birth.ConclusionsTo the best of our knowledge, this is the first reported case of recurrent achondroplasia in siblings of unaffected parents in Nigeria. Management is challenging, and the outcomes of future pregnancies appear bleak. However, proper counseling and follow-up are needed. There is also a need to establish preconception clinics and facilities for prenatal genetic diagnosis and gene therapy in developing countries.
Highlights
The incidence of achondroplasia is very low, and the birth of two or more consecutive babies with achondroplasia to unaffected parents is a rarity
Achondroplasia is a genetic disorder of bone growth and usually is evident at birth
It affects about one in 10,000 to one in 30,000 births and occurs in all races and in both sexes [1]. It is the most common of a group of growth defects characterized by abnormal body proportions: short stature with disproportionate short limbs [1,2]. It is caused by a mutation in a gene, fibroblast growth factor receptor 3 (FGFR3), that is located in chromosome 4, which is one of the physiological regulators of linear bone growth [3,4]
Summary
This presentation highlights one of the genetic problems that could cause recurrent pregnancy loss and dilemmas in management in our environment. In spite of the emphasis on reducing maternal mortality and infections, there is a need to establish preconception clinics and facilities for prenatal genetic diagnosis and gene therapy in developing countries. Authors’ contributions AOI performed the surgery, assisted in the writing of the manuscript and in the obstetrics work-up of the patient, and helped to critically revise the manuscript. GUE worked on sending the specimen for pathologic analysis, assisted in the drafting of the manuscript, performed PubMed research, and helped to critically revise the manuscript. IFU performed the obstetrics workup of the patient, assisted in the writing of the manuscript, and performed PubMed research. All authors read and approved the final manuscript
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