Mirror image duplication of the hands and feet: Report of a sporadic case with multiple congenital anomalies

Mirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients. © 1995 Wiley-Liss, Inc.     

Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome.

A 17-year-old Jewish Sephardi male is described with symphalangism, short stature, multiple skeletal anomalies, and an accessory testis, which appears to be a new malformation syndrome of possible genetic aetiology.     

Osteosarcoma of the hands and feet: a distinct clinico-pathological subgroup

Osteosarcomas of hands or feet are rare, and seemingly these cases differ in presentation and behavior compared to those in usual locations. The clinico-pathological presentation of patients with osteosarcomas of the hand or foot was studied and compared with published cases. Forty osteosarcomas were identified among 4,221 cases, representing 0.95 % of all osteosarcomas. Thirty of these were well documented. Mean age at diagnosis was 43 years (hands) and 36 years (feet) and male–female ratio was 1.2:1 and 2.0:1, respectively. In the hand, 62 % of the osteosarcomas presented in the metacarpals and 23 % in the phalanges, and only two cases occurred in the carpal bones. Distribution in the foot was tarsal bones 56 %, metatarsal bones 33 %, and phalanges 11 %.Of the cases in the hand 54 % were of high grade and of those in the foot 71 %. Survival of osteosarcomas of the hand or foot was 81 %. Only patients with high-grade osteosarcoma died of the disease. Histological grade was the only significant variable related to survival. High-grade osteosarcoma of the hand or feet should be treated similar to those in conventional sites. Osteosarcomas of hands or feet are rare and in a relative high proportion are of low grade. Survival in high-grade cases is comparable to that in conventional sites.     

Adult-onset Still's disease with vesiculopustules on the hands and feet

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology characterized by an evanescent rash, intermittent spiking high fever, arthralgia, and a variety of systemic features. We describe a 46-yr-old woman with Still s disease who presented with a 2-month history of a symmetrical vesiculopustular eruptions only on both hands and feet. Skin biopsy specimens of both vesicle and pustule revealed fibrin thrombi deposition in the small dermal vessels with little inflammation, subepidermal bulla, and ischemic necrosis of the overlying epidermis, which were consistent with a vasculopathic reaction. Her skin lesions gradually disappeared in response to conventional AOSD therapy, as elevated serum ferritin levels, an index of disease activity, decreased. To the best of our knowledge, this is the first case of vesiculopustular lesions as a skin manifestation of AOSD.     

Holt-Oram syndrome associated with anomalies of the feet

Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.     

Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.

A child with complete syndactyly of cup shaped hands and mirror polysyndactyly of the feet, together with a nasal defect, was identified out of a total of 1,031,439 livebirths. She had a pattern of multiple congenital anomalies which was similar to that first described by Laurin et al in 1964 and by Sandrow et al in 1970. Two more cases with a similar pattern of congenital anomalies have recently been published so this is the fifth reported case with this constellation.     

Mirror hands and feet: a further case of Laurin-Sandrow syndrome.

We report a girl with mirror hands and feet and associated groove of the nasal columella. She represents only the sixth reported case of this spectrum of congenital anomalies,first reported by Laurin and Sandrow.     

The influence of hands posture on mental rotation of hands and feet

Behavioural and functional neuroanatomy studies demonstrate that mental rotation of body parts is carried out through a sort of inner motor simulation. Here we examined whether changes of hands posture influence the mental rotation of hands and feet. Twenty healthy subjects were asked to verbally judge the laterality of hands and feet pictures in two different postural conditions. In one condition, subjects kept hands on their knees in anatomical position; in the other, their hands were kept in an unusual posture with intertwined fingers, behind the back. Results show that mental rotation of hands but not of feet was influenced by changes in hands posture. Indeed, while mental rotation of hands was faster in the front than in the back hands position, no similar effect was found when mentally rotating feet. Thus, sensory-motor and postural information coming from the body may influence mental rotation of body parts according to specific, somatotopic rules.     

Mirror hands and feet with a distinct nasal defect,an autosomal dominant condition

We report on a father and daughter with mirror hands and feet and a distinct nasa defect and compare their condition to a similar one reported previously in one other family. © 1993 Wiley-Liss, Inc.     

Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2

A three-way translocation involving a break point of 7q21.2 was found in a boy with tetramelic ectrodactyly.     

Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?

We describe a 14-month-old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.     

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain,eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome

We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely.     

Microcephaly with large anterior fontanelle,generalized convulsions,micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome?

Wiedemann et al. (1985) described a rare syndrome characterised by microcephaly, psychomotor delay, short stature, short fingers and toes with stubby broad thumbs and halluces. Unilateral undescended testis, inguinal hernias, scrotal hypoplasia, and micropenis were also features. They described two males, first cousins, whose mothers and maternal grandfather had short broad thumbs and halluces. We report a male with identical features whose parents were normal. This is only the second report of this syndrome. Autosomal or X-linked dominant inheritance is most likely.     

Giant cell reparative granuloma of the small bones of the hands and feet: a report of three cases

Giant cell reparative granuloma (GCRG) involving the small tubular bones of the hands and feet is a rare entity that can have a wide range of morphologic presentations and can be confused with more aggressive tumors. Awareness of this lesion is important to avoid diagnostic errors and potential mismanagement. We report three cases of GCRG that involve the small tubular bones of the hands and feet, with long-term follow-up periods that confirm a benign course. Previous reports included the differential diagnosis of giant cell tumor, brown tumor of hyperparathyroidism, aneurysmal bone cyst, and non-ossifying fibroma. The presence of chondroid material in two of our cases, one of which also shows atypical nuclei and a periosteal reaction, expands the differential diagnosis to include bone- and cartilage-forming neoplasms.     

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet

Four patients with Prader-Willi syndrome, diagnosed in the neonatal period and followed during the first year of life, are reported. There were three males and one female. All four patients presented with hypotonia and distinct craniofacial dysmorphism. Prometaphase chromosome analysis showed interstitial deletion of 15q in all of them. The placentae and umbilical cords were examined in three of the patients and found normal. Electromyography done in the neonatal period suggested primary myopathy. Height, weight and head circumference were normal at birth in all patients. Hand and foot measurements showed normal size at birth and during the first year of life.