Individuals with thalidomide embryopathy are now approximately 60 years old. For years, they have been compensating for their hypoplastic limbs in various aspects of daily living, and they face secondary problems such as limb and back pain. Imaging analysis is beneficial for understanding the pathogenesis of these problems. However, previous studies on skeletal imaging were mainly radiographic studies conducted at young ages, and there are few studies on skeletal imaging after aging, with most of them being case reports. In this study, detailed analyses of the skeletons of the upper extremities were performed using three-dimensional computed tomography and multiplanar reconstruction images in five individuals with thalidomide embryopathy aged approximately 60 years. Each individual frequently complained of neck, shoulder, and/or back pain. Dislocation, subluxation, and osteoarthritis were observed in the shoulder joints in some individuals. Hypoplasia of the trochlea and/or capitulum of the humerus, coronoid fossa, olecranon, and coronoid processes was observed in the elbow joints. Fusion and hypoplasia of the carpal bones were frequently observed in wrist joints. Radiocarpal and ulnocarpal synostoses were also observed. The joint instability and osteoarthritis found in this study may have contribute to upper limb pain in individuals with thalidomide embryopathy.

Phocomelia is a rare congenital condition characterized by severe limb malformation, where the limbs are either partly or completely underdeveloped. Phocomelia can occur as a syndrome or as a limb-specific abnormality. The frequency of phocomelia ranges from 0.6 to 4.2 per 100,000 live births; hence, there are not many reports of this deformity. Genetic inheritance and the use of thalidomide are the two main etiological factors of phocomelia. Several symptoms and visceral abnormalities are associated with this condition. Ultrasonography is crucial for the early detection of phocomelia during the intrauterine stage. Presented here is a case of phocomelia in a 6-year-old boy who was diagnosed after birth, with no maternal history of thalidomide usage or family history of the same condition. This case is unique in that it involves a child born with phocomelia but no additional congenital defects observed in related syndromes. Because of that, we suggest this case may be isolated.

Ulnar club hand is a rare condition of the upper limbs, for which treatment depends on the degree of morphological and functional impairment, correlating with the radiographic classification of Dobyns, Wood, and Bayne. The aim of the present study is to report a case of a 6-year-old male patient, followed up for type III ulnar club hand (total ulnar dysplasia). Despite the initial difficulty of manipulating objects and performing everyday tasks, conservative physical therapy treatment provided strength gain and development of functional skills for daily life. We conclude that patients with type III deformity can be properly managed with rehabilitation although they require outpatient follow-up until skeletal maturity is reached, as dynamic deformities and new functional limitations may lead to need for corrective surgeries.

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.
UNASSIGNED: None declared.

We herein report on the application of a novel motorized prosthetic hand in a child with upper extremity phocomelia.

Background: Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. Case report: We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient\'s arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. Conclusion: Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.

We present a case describing a technique for the surgical management and aesthetico-functional reconstruction of a shoulder in an adult with unilateral upper limb phocomelia (ULP).1⁠ A 25 year old male patient was presented to our clinic with upper left limb non-syndromic phocomelia. His main concerns was an aesthetically unpleasant limb and shoulder shape. Few older publications describe available options for pediatric patients, such as clavicle transposition or limb amputation, but nowadays ULP treatment options focus on prosthetic rehabilitation (PR) and targeted muscle reinnervation (TMR). Our patient refused any prosthesis, and TMR is expensive, requires an experienced rehabilitation team and has limited availability. We aim to describe a non-expensive, simple and effective option for selected adult patients with limited shoulder functionality wishes.2-5 We used the existent hypoplastic limb for shoulder mound reconstruction, providing the patient with a more anatomical shoulder shape. The palmar skin of the hypoplastic hand and three existing fingers were excised. Also, distal phalanges were amputated. Then, the hand was rotated and positioned under the coracoid process, creating a shoulder-like mound. Six months later, there has been a loss of shoulder volume compared to early postoperative weeks, but the patient is satisfied with the results. Nevertheless, we found some limitations to our approach such as long-lasting postoperative pain, sensory symptomatology, and loss of volume of the reconstructed shoulder. Those could be solved with the complete denervation of the limb and a Latissimus Dorsi (LD) transposition flap in a second stage of reconstructive surgery.

BACKGROUND: Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.
METHODS: We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSIONS: This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

In this study, we studied historical case notes to examine nomenclature of congenital upper limb anomalies and explore the changes in terminologies over time. Original diagnoses were reclassified according to previously published classifications and the most recent Oberg, Manske and Tonkin system. Two hundred and thirty-eight case notes were obtained from the period 1961-1991. Hand plate malformations where the diagnosis was obvious or traumatic defects, were excluded. Eighty-six cases (106 extremities) were finally included where an ambiguous diagnosis, such as \'congenital absence\' was initially given. None of the re-classifications matched the original diagnoses except for cleft hand and radial dysplasia (n = 31). Eighteen phocomelia-type limbs were re-classifiable when seen as a continuum of longitudinal deficiency, but not as an intercalary deficit. This study provided further insights into the evolving nature of nomenclature in congenital upper limb anomalies, especially for the condition of phocomelia.Level of evidence: IV.