Bilateral Upper Limb Complete Phocomelia: A Case Report

被引:0
|
作者
Mesfin, Telila [1 ]
Seyoum, Kenbon [2 ]
Tsegaye, Mesfin [1 ]
Mesfin, Eshetu [3 ]
Tilahun, Geda [1 ]
Atlie, Gela [1 ]
机构
[1] Madda Walabu Univ, Goba Gen Hosp, Sch Med, Goba, Oromia, Ethiopia
[2] Madda Walabu Univ, Goba Gen Hosp, Dept Midwifery, Goba, Oromia, Ethiopia
[3] ICAP, Dept Publ Hlth, Finfine, Oromia, Ethiopia
来源
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL | 2023年 / 16卷
关键词
phocomelia; upper limb; ultrasonography; neonate; ROBERTS-SYNDROME;
D O I
10.2147/IMCRJ.S401298
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Introduction: 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.
引用
收藏
页码:167 / 171
页数:5
相关论文
共 50 条
  • [1] A case report of sporadic (tetra) phocomelia and unilateral isolated upper limb phocomelia: An antenatal ultrasonography of an extremely rare congenital anomaly
    Shanmughan, Asokan Aradhana
    Shah, Abhi Amit
    Baskar, A.
    Murugan, G.
    MEDICAL SCIENCE, 2023, 27 (134)
  • [2] Bilateral Congenital Upper Limb Anomalies - A Case Report
    Diwan, Rakesh Kr
    Namita, Mehrotra
    Umesh, Bindal
    Jethani, S. L.
    Kumar, Sushil
    JOURNAL OF THE ANATOMICAL SOCIETY OF INDIA, 2009, 58 (01) : 44 - 46
  • [3] ANOMALIES OF TEETH IN A CHILD WITH UPPER PHOCOMELIA . REPORT OF A CASE
    HAMMARSTROM, L
    LARSSON, KS
    ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 1970, 29 (02): : 191 - +
  • [4] Tetra-Phocomelia: The Seal Limb Deformity - A Case Report
    Samal, Sunil Kumar
    Rathod, Setu
    Ghose, Seetesh
    JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2015, 9 (02) : QD1 - QD2
  • [5] Bilateral arterial and nervous variations in the human upper limb: A case report
    Salopek, Daniela
    Dujmovic, Ana
    Hadjina, Julijana
    Topic, Iva
    ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER, 2007, 189 (03) : 290 - 294
  • [6] Facilitating Upper Limb Function using Assistive Technology in a Neurological Patient with Bilateral Upper Limb Impairment: A Case Report
    Fulton, Shelley
    Wilkinson, Laura
    Stiller, Kathy
    INTERNET JOURNAL OF ALLIED HEALTH SCIENCES AND PRACTICE, 2020, 18 (04):
  • [7] Intraoperative Diagnosis of Bilateral Upper Limb Arteriovenous Fistulae in a Child: A Case Report
    Trivedi, Bhakti
    Chawathey, Shreyas A.
    Pinjari, Amit N.
    Kataria, Ketan K.
    A & A PRACTICE, 2023, 17 (12) : E01738
  • [8] Case report: vertebral body tethering for idiopathic scoliosis in a patient with bilateral phocomelia
    Jessica H. Heyer
    George W. Fryhofer
    Stuart L. Mitchell
    Apurva S. Shah
    Patrick J. Cahill
    Spine Deformity, 2023, 11 : 243 - 246
  • [9] Case report: vertebral body tethering for idiopathic scoliosis in a patient with bilateral phocomelia
    Heyer, Jessica H.
    Fryhofer, George W.
    Mitchell, Stuart L.
    Shah, Apurva S.
    Cahill, Patrick J.
    SPINE DEFORMITY, 2023, 11 (01) : 243 - 246
  • [10] Bilateral upper limb lymphoedema associated with psoriatic arthritis:: a case report and review of the literature
    Böhm, M
    Riemann, B
    Luger, TA
    Bonsmann, G
    BRITISH JOURNAL OF DERMATOLOGY, 2000, 143 (06) : 1297 - 1301