Phocomelia: case report of a rare congenital disorder

Dar, Ishrat Hussaın; Dar, Mohammed I; Farooq, Omar; Mir, Samia Rashid

doi:10.4103/1110-6530.162227

Cited by 3 publications

(6 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…7 The first instance of phocomelia was reported in Germany in 1956 in a child whose mother had taken thalidomide during pregnancy and who was born without arms and only having vestigial flipper-like hands. 8 It can manifest alone as a skeletal deformity or in conjunction with other visceral abnormalities such as cleft palate, hypertelorism, microretrognathia, horseshoe kidney, and polycystic kidney. 3 Our patient had micrognathia, internally rotated left leg and short neck.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Upper Limb Complete Phocomelia: A Case Report

Mesfin¹,

Seyoum²,

Tsegaye³

et al. 2023

IMCRJ

View full text Add to dashboard Cite

Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb -the humerus or femur, radius or tibia, ulna or fibula -_is missing or noticeably hypoplastic. It refers to how the patient's limbs resemble marine creatures' flippers and its prevalence is 0.62 in 100,000 births. Case: We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure. Conclusion: Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management.

show abstract

Section: Discussionmentioning

confidence: 99%

Bilateral Upper Limb Complete Phocomelia: A Case Report

Mesfin¹,

Seyoum²,

Tsegaye³

et al. 2023

IMCRJ

View full text Add to dashboard Cite

show abstract

“…The first case of phocomelia was described in Germany in 1956 in a baby whose mother had received thalidomide during pregnancy, in which the baby was born with only vestigial flipper-like hands without arms. 2 Thalidomide was used as a sedative or hypnotic and was claimed to cure anxiety, depression, gastritis, and insomnia. 2 Thalidomide has been effectively linked with widespread severe disabilities or death, among babies from Europe with utero deformities ranging from limb defects, deformed eyes, hearts, alimentary and urinary tract anomalies, blindness, and deafness 3 , 4 Between 5000 and 7000 babies were born with phocomelia in Europe, of whom only 40% of babies whose mother took thalidomide survived in Germany.…”

Section: Discussionmentioning

confidence: 99%

“… 2 Thalidomide was used as a sedative or hypnotic and was claimed to cure anxiety, depression, gastritis, and insomnia. 2 Thalidomide has been effectively linked with widespread severe disabilities or death, among babies from Europe with utero deformities ranging from limb defects, deformed eyes, hearts, alimentary and urinary tract anomalies, blindness, and deafness 3 , 4 Between 5000 and 7000 babies were born with phocomelia in Europe, of whom only 40% of babies whose mother took thalidomide survived in Germany. 5 The drug was withdrawn from Germany in 1959.…”

Section: Discussionmentioning

confidence: 99%

A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia

Odunvbun¹,

Johnson²,

Kofa³

et al. 2021

gmj

View full text Add to dashboard Cite

We report a case of spontaneous rare birth deformity. A case of Amelia and Phocomelia in a neonate. Amelia is a rare congenital disorder, even more so, is the combined amelia and phocomelia in a neonate. True Phocomelia was defined as the total absence of the intermediate segments of the limb. With the hand or foot (normal, almost normal, or malformed), directly attached to the trunk. The common aetiological association with phocomelia is from the use of thalidomide and genetic inheritance, as an autosomal recessive trait, involving chromosome 8. Isolated amelia is not generally considered to be of genetic origin. We present a neonate delivered by a 28-years multipara in Liberia, in West Africa Sub-Region, with amelia involving the two upper limbs, right lower limb and a Phocomelia involving the left lower limb (absence of tibia and fibula and feet with three toes). Africa is the only continent not included in the International Clearinghouse for Birth Defects Surveillance and Research. It is hoped that case reports of congenital limb deformities from Africa, will contribute to the formation of a database for birth defects shortly.

show abstract

“…According to the national organization for rare disorders (NORD), when phocomelia is transmitted in its familial genetic form it is seen as an autosomal recessive trait and the mutation is linked to chromosome 8. 2 However, as the family history is not reliable, sporadic phocomelia could not be ruled out.…”

Section: Thalidomide-induced Phocomeliamentioning

confidence: 99%

“…It may be inherited as an autosomal recessive or dominant disorder, linked to chromosome 8. 2 Running down to the history, in the middle of the first century BC, Lucretius, in his poem "De rerumnatura" described beings who were disabled by the adhesion of their limbs to the trunk. This could be one of the first conserved historical descriptions of patients.…”

Section: Introductionmentioning

confidence: 99%

Phocomelia: is it time to retrospect, regulate and rescue? a case report

Rathinam

Nagaraj²,

R.³

et al. 2023

Int J Basic Clin Pharmacol

View full text Add to dashboard Cite

Phocomelia is an extremely rare congenital anomaly which presents as, the proximal part of the limb (humerus or femur, radius or tibia, ulna or fibula) being absent or markedly hypoplastic, with normal or near normal hand or foot. True phocomelia presents as the total absence of the intermediate segments of the limb, with the hand or foot directly attached to the trunk. Presented here is a case of phocomelia in an aborted foetus, with no maternal history of thalidomide exposure in her pregnancy and for whom evaluation of other family members/ siblings failed to reveal any substantial abnormality. The differential diagnosis and the significance of reporting of serious adverse drug reactions are discussed.

show abstract

Phocomelia: case report of a rare congenital disorder

Cited by 3 publications

References 1 publication

Bilateral Upper Limb Complete Phocomelia: A Case Report

Bilateral Upper Limb Complete Phocomelia: A Case Report

A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia

Phocomelia: is it time to retrospect, regulate and rescue? a case report

Contact Info

Product

Resources

About