UNASSIGNED: Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term \"terminal hemimelia\" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia.
UNASSIGNED: In total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed. Patients were divided into terminal hemimelia and classic fibular hemimelia groups, and their demographic characteristics and clinical and radiographic findings were compared.
UNASSIGNED: Femoral shortening, knee valgus, and tibial spine hypoplasia were less common in terminal hemimelia (n = 13) than in classic fibular hemimelia (n = 17) (p = 0.03, p < 0.001, and p = 0.003, respectively). None of the patients in the terminal hemimelia group exhibited knee instability, whereas 12% of patients with classic fibular hemimelia did. Ball-and-socket ankle and absence of lateral rays were commonly observed in both groups. However, tarsal coalition was observed less frequently in terminal hemimelia (p = 0.004). All terminal hemimelia patients exhibited a painless plantigrade foot without ankle instability. Despite limb-length discrepancy at maturity averaging 40.4 mm for terminal hemimelia and 67.0 mm for classic fibular hemimelia (p < 0.001), patients with terminal hemimelia, except for one, exhibited > 20 mm of limb-length discrepancy. However, 46% of them underwent limb-length equalization procedures, mostly single-stage tibial lengthening, at a mean age of 11.2 years.
UNASSIGNED: Terminal hemimelia may present with a milder phenotype than classic fibular hemimelia. It mainly overlaps with the symptoms of fibular hemimelia below the ankle joint and manifests as limb-length discrepancy. However, a considerable number of patients with terminal hemimelia required limb-length equalization procedures, for example single-stage tibial lengthening.
UNASSIGNED: level IV.

Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000. This condition has been classified into 4 types, with the rare Type 4 variant involving humeroradial synostosis. We present a unique case of bilateral complete ulna hemimelia, humeroradial synostosis, and oligodactyly, in an 11-month-old female with bilateral upper limb shortening and restricted elbow movement since birth. Clinical examination revealed bilateral upper limb shortening, medial deviation of both wrist joints, fixed extension of both elbow joints, and bilateral absence of the cubital fossa. Radiographs confirmed bilateral micromelia, absence of ulna, humeroradial synostosis, and oligodactyly. This case, exhibiting bilateral Type 4 ulna hemimelia with Class 1 humeroradial synostosis, is a complex variant, rarely reported, and the first documented in Ghana. It also highlights the importance of radiological assessment in ensuring accurate diagnosis. Long-term follow-up and potential surgical interventions are crucial for optimizing upper limb function in such cases.

Ulnar longitudinal deficiency (ULD) is a rare skeletal condition marked by the partial or complete failure of the formation of the ulna. This rare condition is often associated with fixed flexion deformity, radial head subluxation, complex carpal, metacarpal, and digital abnormalities. Most presentations are male-preponderant and right-sided. Different classifications have described ULD. Usually, the condition is not associated with systemic findings; however, detailed physical examination and radiologic evaluations are crucial for assessing and managing affected patients. We report a rare case of ULD in an 11-month-old female infant with congenital absence of the left ulna, four digits, and a postaxial hypoplastic finger.

Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb\'s skeletal elements, whereas hypomelia is defined by the incomplete development of a limb\'s skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.

Radial dysplasia congenital defect resulting in shortening of the forearm due to congenital shortening of the radius. Isidore Geoffroy Saint-Hilaire coined the term \"hemimelia\" around 1836-1837. Affected individuals may also have reduced limb functions abnormalities of the soft tissues, vasculature of the forearm. The management consist of splinting, stretching, and centralization. Physical therapy management plays a vital role in regaining hand function and improving quality of life. In severe cases, surgical correction such as osteotomy. Radial hemimelia is a rare disorder with 1/5000-30,000 live birth. A 16-year-old girl was admitted to Acharya Vinoba Bhave Rural Hospital (AVBRH) with complaints of weakness of the right upper limb along with a tingling sensation from the past 1 year. She was operated on with ulnar osteotomy and physical therapy management was initiated which consists of regaining mobility and strength and making the patient functionally independent. We concluded that a well structure physical therapy protocol along with medical therapy post-surgery improved the overall status of the patient.

Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report a case with a classical presentation of Gollop-Wolfgang complex.

Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.

Ulnar hemimelia is a very rare skeletal abnormality characterized by the total or partial absence of the ulna. It is reported to occur in approximately 1 per 150,000 live births. Some shortening of the forearm, radial bowing, and tendency of the hand to drift to the ulnar side of the wrist usually accompany ulnar hemimelia. Other skeletal anomalies such as humeroradial synostosis, radial head dislocation, carpal or metacarpal coalition, and digital abnormalities may also be seen in cases of ulnar hemimelia. The patients may be asymptomatic in the presence of an isolated mild ulnar deficiency. On the other hand, cases of prominent ulnar deficiency accompanied by complex upper limb abnormalities leading to severe disability may also be observed. We herein present four patients with varying degrees of ulnar hemimelia. Our first case had an isolated ulnar hemimelia, whereas the other three had additional upper limb abnormalities of different types.

Turner\'s syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.

Hemimelia as a congenital anomaly is a failure of development of extremities formation in embryonic period. This anomaly is defined as complete absence of the part of extremities and different forms were explained for hemimelia. Adactyly is an alternative name for transverse hemimelia and is a rare disorder in the most of animal species. A two months old male lamb with normal vital signs was referred to clinic due to both hind limbs shortness and absence of hooves from the birth day. Clinical and radiological examinations were performed and partial hemimelia was confirmed radiographically in both hind limbs. In left hind limb, total absence of the toe indicated presence of adactyly in this limb. No other congenital deformities were diagnosed in skeletal system based on clinical and radiological examinations. According to our knowledge, this is the first report of such rare conditions in a lamb. Clinical findings and radiological signs of this rare anomaly in a lamb were described in this report.