An unusual association of ulnar hemimelia with mesoaxial synostotic syndactyly

Ulnar hemimelia, also referred to as post-axial longitudinal deficiency of the upper limb, is a very rare skeletal anomaly characterized by the partial or complete absence of the ulna. The majority of the reported cases are sporadic and more common in males. The disorder is mostly unilateral, right-sided and incomplete. A slight shortening of the forearm, radial bowing and ulnar-sided hand drift are the anomalies which often accompany ulnar hemimelia. Ulnar hemimelia may also be seen in association with complex wrist and hand anomalies. The absence of post-axial metacarpal and digital bones are frequent findings in patients with this rare disorder. Cases with additional digital abnormalities such as post-axial syndactyly and camptodactyly are also present in the literature. However, a case of ulnar hemimelia in association with mesoaxial synostotic syndactyly has never been reported to date.

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HOLT-ORAM SYNDROME: RARE CASE SERIES

10.36106/gjra/3104021 ◽

2021 ◽

pp. 46-47

Author(s):

Mahendar Reddy Muskula ◽

Roshin P ◽

Ajay J ◽

Sanjeev Chetty

Keyword(s):

Congenital Heart Defects ◽

Upper Limb ◽

Rare Case ◽

Congenital Heart ◽

Autosomal Dominant ◽

Heart Defects ◽

Case Series ◽

Rare Disorder ◽

Autosomal Dominant Disorder ◽

Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

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An Unusual Association of the Windblown Hand with upper Limb Hypertrophy

Journal of Hand Surgery (European Volume) ◽

10.1016/0266-7681(92)90025-w ◽

1992 ◽

Vol 17 (1) ◽

pp. 113-117 ◽

Cited By ~ 14

Author(s):

Y. C. SO

Keyword(s):

Soft Tissue ◽

Upper Limb ◽

Surgical Correction ◽

Unusual Association ◽

Hand Deformity

An eight-year-old boy presented with a congenital windblown hand deformity associated with partial hypertrophy of that arm. Many of the classical features of the windblown hand syndrome described in previous papers were absent. In this case, the primary cause of the ulnar-drift deformity was an anomalous epiphysis at the base of the second metacarpal. Surgical correction was readily obtained by osteotomy at the base of the metacarpal combined with soft tissue re-alignment.

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Children

10.1093/med/9780198757689.003.0016 ◽

2018 ◽

Author(s):

Ian Grant ◽

Roderick Dunn

Keyword(s):

Clinical Features ◽

Upper Limb ◽

Conservative Management ◽

Classification Systems ◽

Hand Trauma ◽

Limb Bones ◽

Parents And Children ◽

Short Section ◽

Hand Anomalies

Congenital hand anomalies are common and various, and the terminology may be confusing to the uninitiated. This chapter provides an overview of congenital hand anomalies, including general considerations about dealing with parents and children. Embryology, ossification of upper limb bones, and common classification systems are described. Aetiology, incidence, associated disorders, clinical features, and principles of surgical and conservative management are described where possible for each condition. At the end of the chapter there is a short section on specific considerations for the treatment of hand trauma in children.

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Congenital Unilateral Synostosis of Elbow Associated with Multiple Hand Anomalies (Case Report)

Hand Surgery ◽

10.1142/s0218810497000082 ◽

1997 ◽

Vol 02 (01) ◽

pp. 47-52

Author(s):

Emre Togrul ◽

Yaman Sarpel ◽

Huseyin Bayram

Keyword(s):

Case Report ◽

Upper Limb ◽

Rare Malformation ◽

The Right ◽

Hand Anomalies

Congenital synostosis of the elbow is a very rare malformation of the upper limb. We present two similar cases with congenital humeroradial synostosis in association with absence of the ulnar carpals, fourth and fifth metacarpals and phalanges, and syndactily between the second and third fingers. Both cases were male and their anomalies were on the right side. In the second case, an Aitken type-2 proximal focal deficiency of femur was also present.

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Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association

Case Reports in Radiology ◽

10.1155/2019/3419383 ◽

2019 ◽

Vol 2019 ◽

pp. 1-5

Author(s):

Meltem Özdemir ◽

Rasime Pelin Kavak ◽

Önder Eraslan

Keyword(s):

Upper Limb ◽

Congenital Malformations ◽

Unusual Case ◽

Septal Defect ◽

Congenital Abnormalities ◽

Vacterl Association ◽

Skeletal Abnormality ◽

Fibular Hemimelia ◽

Unusual Association ◽

Proximal Femoral Focal Deficiency

Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been recorded to date. We herein present an unusual case of bilateral upper limb meromelia accompanied by unilateral oligodactyly and brachymesophalangy of the foot.

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Idiopathic hypereosinophilic syndrome presenting as monoplegia

BMJ Case Reports ◽

10.1136/bcr-2019-232889 ◽

2019 ◽

Vol 12 (12) ◽

pp. e232889

Author(s):

Saraswati Kushwah ◽

Manisha Gulia ◽

Monica Gupta ◽

Anita Tahlan

Keyword(s):

Female Patient ◽

Organ Dysfunction ◽

Clinical Features ◽

Upper Limb ◽

Hypereosinophilic Syndrome ◽

Sudden Onset ◽

Neurological Symptoms ◽

Rare Disorder ◽

Idiopathic Hypereosinophilic Syndrome

Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder. It is characterised by persistent eosinophilia with eosinophil mediated tissue infiltration and organ dysfunction. Clinical features of IHES vary widely, as it may present with dermatological, pulmonary, gastrointestinal, cardiac or neurological symptoms. We hereby report a female patient who presented with sudden onset upper limb monoplegia and after thorough investigations she was diagnosed as a case of IHES. She was managed with corticosteroids and improved with same.

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Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery

Journal of Hand Surgery (European Volume) ◽

10.1177/1753193418801280 ◽

2018 ◽

Vol 44 (1) ◽

pp. 4-14 ◽

Cited By ~ 4

Author(s):

Kerby C. Oberg

Keyword(s):

Developmental Biology ◽

Upper Limb ◽

Limb Development ◽

Classification Scheme ◽

International Federation ◽

Clinical Genetics ◽

New Classification ◽

Limb Anomalies ◽

Hand Anomalies

Recently the International Federation of Societies for Surgery of the Hand replaced the Swanson scheme for classifying congenital upper limb anomalies with the Oberg, Manske, Tonkin (OMT) classification. This review explores the reasons for this change after nearly 50 years of using the Swanson classification. In particular, it documents the state of our understanding regarding genetics and limb development at the time Swanson generated his classification. It also describes the continued progress in clinical genetics and developmental biology. Such progress drives the need to embrace and incorporate these changes within a new classification scheme; one that will improve communication, diagnosis, and support further discovery of the pathogenesis of congenital hand anomalies.

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Reflex Responses in Upper Limb Muscles to Cutaneous Stimuli

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100048174 ◽

1993 ◽

Vol 20 (04) ◽

pp. 271-278 ◽

Cited By ~ 30

Author(s):

R. Chen

Keyword(s):

Stimulus Intensity ◽

Upper Limb ◽

Healthy Subjects ◽

Voluntary Contraction ◽

Cutaneous Reflexes ◽

Focal Lesions ◽

Normal Ranges ◽

Conduction Velocities ◽

Limb Muscles ◽

Biphasic Responses

ABSTRACT:Cutaneous reflexes in the upper limb were elicited by stimulating digital nerves and recorded by averaging rectified EMG from proximal and distal upper limb muscles during voluntary contraction. Distal muscles often showed a triphasic response: an inhibition with onset about 50 ms (Il) followed by a facilitation with onset about 60 ms (E2) followed by another inhibition with onset about 80 ms (12). Proximal muscles generally showed biphasic responses beginning with facilitation or inhibition with onset at about 40 ms. Normal ranges for the amplitude of these components were established from recordings on 22 arms of 11 healthy subjects. An attempt was made to determine the alterent fibers responsible for the various components by varying the stimulus intensity, by causing ischemic block of larger fibers and by estimating the afferent conduction velocities. The central pathways mediating these reflexes were examined by estimating central delays and by studying patients with focal lesions

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