Imperforate anus in Feingold syndrome

A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia without fistula (type A). Her father, who had short stature and learning disabilities, had congenital imperforate anus with a recto-vesical fistula. This is the first report of distal intestinal atresia in Feingold syndrome.     

Autosomal dominant inheritance of Klein-Waardenburg syndrome.

We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein-Waardenburg syndrome is an autosomal dominant syndrome.     

Autosomal dominant inheritance of Klein–Waardenburg syndrome

We report on 2 sibs with the Klein–Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers. The children's father and paternal aunt are also affected. This report confirms that the Klein–Waardenburg syndrome is an autosomal dominant syndrome.     

Autosomal-dominant inheritance of distal arthrogryposis

We report on a 32-year-old Italian man, his 5-year-old daughter, and his 3 1/2-year-old son, all of whom had congenital joint contractures. Each has severe ulnar deviation of fingers and soft-tissue contractures of both hands; and each had bilateral clubfeet at birth. The father is short in stature, as are the children, who also have delayed carpal ossification. The findings in this family suggest autosomal-dominant inheritance of the condition. The clinical features are consistent with the condition currently referred to as “distal” arthrogryposis.     

Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: a new autosomal recessive syndrome or a variant of Fraser syndrome?

We describe two siblings of unlike gender born to non-consanguineous parents, with similar and unique congenital malformations. These include fused eyelids, craniofacial anomalies, ovarian cyst, subglottic stenosis, specific digital abnormalities, and no detected chromosomal abnormality. The specific digital abnormalities in both patients are characterized by extension of metacarpophalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third. Similar changes were noted in both second toes. The brain weight of both infants was less than that expected for their birth weights. We reviewed the differential diagnosis of fused eyelids, airway anomalies, and ovarian cysts, and the manifestations resemble those seen in Fraser syndrome. We conclude that the dissimilarities warrant considering that our patients have a distinct autosomal recessive syndrome.     

Dermatoglyphic and radiographic findings in a mother and daughter with pseudohypoparathyroidism

The dermatoglyphic features of a mother and daughter with pseudohypoparathyroidism were compared with those of 19 other reported PHP cases and with findings typical of 45, X Turner syndrome. Our observations included large patterns with a predominance of whorls, unusual accidental patterns on the third fingers, elevated total and absolute finger ridge counts, extralimital digital triradii, intermediately placed axial triradii, and a single complete transverse palmar crease. With barium-coated hand radiographs, the positions of the palmar digital triradii were compared with those of the underlying metacarpal and carpal bones. Normally, the fourth digital triradii (c) are superficial to the epiphyseal region of the proximal phalanx, near the fourth M-P joint. In our cases, the c triradii were distal to the M-P joint, adjacent to the diaphysis of the proximal phalanx. These findings, related to post-natal differences in growth potential of osseous structures and overlying dermal ridge tissues in this disease, may also be relevant to other syndromes with abnormal development of the hand. The need for further delineation of PHP dermatoglyphics and comparison of findings with data from Turner syndrome and normals is stressed.     

拇指与2～5指对指特征测试及其意义

目的:通过成人拇指与2～5指对指特征测试(TCFTT),探讨掌指关节在对指功能中重要性的测试方法。方法:成人健康手10双(男5,女5),在掌指关节、近指间关节及远指间关节屈曲或伸直位时,2～5指与拇指分别对指,测定接触范围和对指指印。结果:当2～5指掌指关节可屈曲及远指间关节可屈曲或伸直位固定时,拇指与2～5指对指接触范围在近指间关节可屈曲时不受限( ),在近指间关节伸直位固定时略受限( ～ );对指指印比较完整,均可显示近节、中节和远节指印。当2～5指掌指关节伸直位固定时,近指间关节可屈曲时,拇指和2～5指接触范围明显受限( ～ ),对指指印显示为远节,或包括部分中节;近指间关节也伸直位固定时,拇指与2～5指不能接触(-),无对指指印显示。结论:TCFTT可以充分阐述2～5指掌指关节在对指功能及手功能作用中的重要意义。     

Measurement of three-joint-finger motions: reality or fancy? A three-dimensional anatomical approach

Various anatomical publications have reported two-dimensional studies with flexion/extension or abduction/adduction motion analysis, but longitudinal axial rotations (LAR) of three-joint fingers have rarely been mentioned. The aim of our study was to determine the maximal passive motions of three-joint-fingers and to measure the passive LAR of phalanges during a flexion/extension movement. A protocol of anatomical dissection was carried out with 22 fresh-frozen limbs from 11 human cadavers free from any visible pathology. The sample consisted of six females and five males with a mean age of 75.7 years (range 65-94 years). Passive motions of fingers excluding the thumb were analyzed with a wire circling technique. Extreme flexion/extension angles and adduction/abduction laxities were measured for each joint. LAR angles of distal bony segment position were evaluated in comparison with the proximal bony segment position in extreme flexion or extension. The results were recorded for the joints of each three-joint-finger. No difference was statistically related to sex or right/left-sided criteria ( p>0.05). Passive LARs were measured in spite of an aggressive anatomical protocol. A small database was set up. LARs were an important third type of motion. They should be analyzed during a routine clinical examination of patients' hands as well as flexion/extension or abduction/adduction motions.     

A new distal arthrogryposis syndrome characterized by plantar flexion contractures

The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., TNNI2, TNNT3, MYH3, MYH8, and TPM2) that encode components of the contractile apparatus of fast-twitch myofibers and cause DA syndromes. We now report on the phenotypic features of a novel DA disorder characterized primarily by plantar flexion contractures in a large five-generation Utah family. Contractures of hips, elbows, wrists, and fingers were much milder though they varied in severity among affected individuals. All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10).     

The Aase-Smith syndrome

A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy-Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.     

Syndrome of mental retardation,facial anomalies,hypopituitarism, and distal arthrogryposis in sibs

A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camp-todactyly of fingers and “hammer toes,” severe mental retardation, and hypopituitar-ism. The girl is now 6½ years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests auto-somal recessive inheritance.     

De novo complete trisomy 5p: Clinical and neuroradiological findings

A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2–5 were either aplastic/hypoplastic or fused between the corresponding digits. The second fingers and fourth fingernails were most severely affected in both patients. The mother's hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused. Besides the absence of fusion lines, the shape of the fused middle and distal phalanges was quite different from that of other types of fusion, i.e., fused bones in both patients did not maintain the normal configuration of bone, referring to as “middle‐distal phalangeal complex”. Distal symphalangism was observed in toes 2–5 of the mother and in toe 3 of the son. Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone‐shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones. Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative. © 2002 Wiley‐Liss, Inc.     

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

We report on 44 patients (18 with additional affected family members), with con genital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type I, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudocamptodactyly syndrome, congenital contractual arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.     

Correction of Long Standing Proximal Interphalangeal Flexion Contractures with Cross Finger Flaps and Vigorous Postoperative Exercises

Purpose

We reviewed the results of cross finger flaps after surgical release and vigorous postoperative exercises for long-standing, severe flexion contractures of the Proximal Interphalangeal (PIP) joints of fingers.

Materials and Methods

In 9 patients, all contracted tissue was sequentially released and the resultant skin defect was covered with a cross-finger flap. The cause of the contracture was contact burn in 4, skin graft in 3, and a previous operation in 2. The mean follow-up period was 41.2 months.

Results

The mean flexion contracture/further flexion in the joints were improved from 73.4/87.8° to 8.4/95.4° at the last follow-up. A mean of 19.5° of extension was achieved with vigorous extension exercise after the operation. The mean gain in range of motion (ROM) was 79.4°. Near full ROM was achieved in 3 cases. There were no major complications.

Conclusions

In severe flexion contractures with scarring of the PIP joints of fingers, cross finger flaps after sufficient release and vigorous postoperative exercise seems to be a reasonable option to obtain satisfactory ROM of the joints.     

Rotations of three-joint fingers: a radiological study

The aim of the current study was to test a protocol of quantification of phalangeal three-dimensional (3D) rotations during flexion of three-joint digits. Three-dimensional-specific software was developed to analyze CT reconstruction images. A protocol was carried out with six fresh-frozen upper limbs from human cadavers free from any visible pathology (three females, three males). CT millimetric slices were done for reconstruction of hand bone units. Orthonormal coordinate systems of inertia were calculated for each unit. Three-dimensional phalangeal rotations were estimated between two static positions (fingers in extension and in a fist position). Results were displayed for the joints of each three-joint finger with calculation of 3D rotations. Mean longitudinal axial rotations of metacarpophalangeal (MCP), proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints ranged from 14° pronation to 19° supination. The index finger was in a global pronation position (4/6 specimens). The fourth and fifth fingers were in a global supination position in every case. The third finger was in a more variable global rotation (pronation in 2/6 specimens). MCP, PIP and DIP flexion angles ranged respectively from 71° to 89°, 65° to 87°, and 41° to 77°. Lateral angles ranged from 19° (ulnar angulation) to 23° (radial angulation). The study of phalangeal rotations was possible in spite of a heavy protocol. This protocol could be partially automatated to speed up the analyses. Longitudinal axial rotations could be analyzed, in addition to flexion/extension or abduction/adduction rotations. CT scan reconstructions would be helpful for investigating pathological fingers. Abnormal rotations of digits could be quantified more precisely than during a current clinical examination of the hand.     

Selectivity of voluntary finger flexion during ischemic nerve block of the hand

During ischemic nerve block of an extremity the cortical representations of muscles proximal to the block are known to expand, increasing the overlap of different muscle representations. Such reorganization mimics that seen in actual amputees. We investigated whether such changes degrade voluntary control of muscles proximal to the block. Nine subjects produced brief, isometric flexion force selectively with each fingertip before, during, and after ischemic block at the wrist. We recorded the isometric force exerted at the distal phalanx of each digit, along with electromyographic (EMG) activity from intrinsic and extrinsic finger muscles. Despite paralysis of the intrinsic hand muscles, and associated decrements in the flexion forces exerted by the thumb, index, and little fingers, the selectivity of voluntary finger flexion forces and of EMG activity in the extrinsic finger muscles that generated these forces remained unchanged. Our observations indicate that during ischemic nerve block reorganization does not eliminate or degrade motor representations of the temporarily deafferented and paralyzed fingers.     

Regional difference of muscle oxygen saturation and blood volume during exercise determined by near infrared imaging device.

Using a near infrared (NIR) imaging device, we tested the hypothesis that regional differences in oxygen status could be detected in the gastrocnemius muscle during exercise and recovery. Six healthy subjects performed the standing plantar flexion exercises for 2 min; the frequency was one contraction per second. The NIR imaging device was placed over the medial head of the right gastrocnemius muscle and the signals from two optical sensors situated on the middle proximal and middle distal portions were used. The NIR-O(2) saturation (difference between deoxygenated and oxygenated Hb signals) and NIR-blood volume (sum of the oxygenated and deoxygenated Hb signals) were calculated in optical density units. Plantar flexion resulted in more deoxygenation during exercise and more reoxygenation during recovery in the distal portion compared with the proximal portion. The changes in NIR-O(2) between rest and a 2 min exercise, and between a 2 min exercise and a 3 min recovery were 0.11 and -0.23, respectively, in the distal portion, which were significantly larger than proximal values (0.05 and -0.10, p < 0.05). Plantar flexion resulted in lower NIR-blood volumes during exercise and greater recovery of blood after exercise in the distal portion compared with the proximal portion. The changes in NIR blood volume between rest and a 2 min exercise and between a 2 min exercise and a 3 min recovery were -0.19 and 0.31, respectively, in the distal portion, significantly larger than proximal values (-0.07 and 0.12, p < 0.05 for all comparisons). These findings indicate that the distal portion of the medial gastrocnemius had larger changes in NIR-O(2) saturation and NIR-blood volume than the proximal portion had. This is consistent with the distal portion having a greater impairment of blood flow possibly because of the higher intramuscular pressure during exercise. In conclusion: (1) regional differences in oxygen status in the gastrocnemius muscle were detected with exercise, with the distal portion having greater NIR-O(2) saturation and NIR-blood volume changes, and (2) the NIR imaging device might be a useful method to detect the regional differences of oxygen status in the muscle.     

Multiple pterygium syndrome

We describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and “rocker-bottom” feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.     

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

We describe a male neonate with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, micrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and ocular abnormalities. Severe cardiac valve insufficiency and aortic dilatation resulted in cardiac failure and death 20 hours after birth. This case represents the severe end of the clinical spectrum of Marfan syndrome. As similar patients have been reported, they may represent a separate mutation.     

Extending the spectrum of distal arthrogryposis

We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significant overlap between the different syndromes. © 1996 Wiley-Liss, Inc.