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PubMed1988

Poland's syndrome: variable expression and associated anomalies.

Poland's syndrome is a well-known constellation of congenital anomalies that includes varying degrees of hypoplasia involving the thoracic cage in association with anomalies of the hand. Although the latter are most frequently described as syndactyly with short or absent middle phalanges, many forms of expression were seen in a series of 20 patients. Thirty-one other anomalies were seen in this group in addition to those usually considered as part of the syndrome. Of special interest are those involving the spine and genitourinary tract that require special studies for early detection.

Abnormalities, Multiple↗
PubMed1990

Congenital onychodysplasia of the index fingers.

Twenty-two fingers of 13 patients had dysplastic nails. Four types of congenital onychodysplasia of the index fingers such as anonychia, rudimentary, split rudimentary (polyonychia), and micronychia were found in five, three, eight, and six fingers, respectively. Narrowing at the distal end of the affected distal phalanx (lack of the cresent-shaped cap), and a Y-shaped bony projection were characteristic features seen on x-ray films. There were no associated ectodermal abnormalities. Syndactyly was a relatively common associated hand anomaly. Some cases of congenital onychodysplasia of the index fingers were inherited. These findings suggest that impediments to the membranous ossification center can lead to a dysplastic crescent-shaped cap with nail anomalies.

Adult↗
PubMed1993

The treatment of metacarpal synostosis.

One hundred nine patients with metacarpal synostosis were examined to determine the best treatment for this condition. The fourth and fifth metacarpals are most frequently affected, and bilateral involvement occurs often. Many anomalies are associated with synostosis, as well as many syndromes such as Apert's syndrome, central polydactyly, syndactyly, and partial absence of the hand. An osteotomy to split and separate the synostosis, a bone graft to lengthen the fifth metacarpal, collateral ligament reconstruction, and tendon transposition of the extensor digiti minimi quinti all appear to be valuable for the treatment of this rare congenital anomaly.

Abnormalities, Multiple↗
PubMed1994

Palmar dermatoglyphics in congenital hand anomalies.

A palmar dermatoglyphic study of 392 hands of patients with congenital hand anomalies was performed to evaluate the number of digital triradii, the position of an axial triradius, the incidence of hypothenar patterns, the pattern intensity, and the main line index. Remarkable variations, which are rare in normal hands, were frequently observed. The results deviated from the normal range in cases of ectrodactyly and syndactyly, but were within the normal range in cases of polydactyly. The dermatoglyphics associated with each type of hand anomaly was characteristic and discriminative. Dermatoglyphics was also helpful in evaluating the function of the hand, and in estimating the time of the damage to the hand in embryogenesis.

Dermatoglyphics↗
PubMed2005

Anatomic correction of polysyndactyly of the fifth toe fused with the fourth toe.

A new surgical technique for correction of polysyndactyly with the fifth toe fused with the fourth toe was devised. The technique consists of the creation of a dorsal rectangular flap on the dorsum of the syndactyly web for the new fourth web, making a medially based plantar rectangular flap on the plantar surface of the fifth toe, and a sixth toe-tip-based rectangular hinge flap to reconstruct the lateral side of the fourth toe and medial side of the new fifth toe, respectively. All suture lines are intended to be located in the transition of the plantar and dorsal surfaces of the web and digit. This technique is characterised by accurate anatomic reconstruction, which produces better aesthetic results with no wasting of any skin components.

Female↗
PubMed2005

Type 0 ulnar longitudinal deficiency.

PURPOSE: To describe the characteristics of type 0 ulnar longitudinal deficiency (ULD) in which deficiencies are present in the hand and carpus without involvement of the forearm or elbow. METHODS: A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with ectrodactyly, hand hypoplasia, or ULD was performed to evaluate for a diagnosis of ULD isolated to the hand. RESULTS: Thirteen extremities were identified. Three extremities had complete absence of the small-finger ray (phalanges and metacarpal) and 6 extremities had complete absence of the ring- and small-finger rays. Four hands showed hypoplasia of the small finger, 3 in conjunction with a ring- and small-metacarpal synostosis and 1 in isolation. Three extremities also had radial-sided hypoplasia or aplasia of the rays. Additional common findings included simple syndactyly, delta phalanx, and carpal fusions, most commonly of the capitohamate joint. CONCLUSIONS: Patients with isolated ulnar-sided hand deficiency such as ectrodactyly of the ring and/or small fingers or synostosis of the small metacarpal of the ring finger in the presence of a normal forearm may be diagnosed as having type 0 ULD. We propose that type 0 be added to the current classification systems for ULD representing those extremities with deficiencies isolated to the hand.

Female↗
PubMed2005

Modified dorsal rotation advancement flap for release of the thumb web space.

The dorsal rotational advancement flap described by Buck-Gramcko in 1998 is a good local flap for release of the thumb index web space. This paper describes a modification which broadens the apex of the flap and increases its length. This modification provides a long wide flap which releases the thumb index web space with suture lines far beyond the web. In addition, it provides a release of the palmar skin even when very tight in severe narrowing of the web. It is suitable for release of thumb-index syndactyly, severe narrowing of the web in thumb hypoplasia and congenital clasped thumb.

Child, Preschool↗
PubMed1995

Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance.

Abnormalities, Multiple↗
PubMed1990

Safety of fluorescein angiography during pregnancy.

We sent 424 retina specialists questionnaires on fluorescein angiography performed on pregnant women; 399 specialists responded. Of these, 309 (77%) had never performed fluorescein angiography on a pregnant woman. Ninety specialists (23%) had performed at least one fluorescein angiogram on a pregnant woman; detailed information was obtained on 105 patients. Authors of previous reports that included fluorescein angiography during pregnancy provided information about an additional 11 patients. Substantiated side effects were nausea or vomiting in seven patients. Anomalies at birth, an undescended testicle and syndactyly, were reported in two children. There was one stillbirth with pathologic findings classic for toxemia, and one fetal death occurred several months after fluorescein angiography. One therapeutic abortion was performed for complications in toxemia. One spontaneous abortion occurred three days after fluorescein angiography in a patient who was four weeks pregnant. Eight children born to toxemic mothers had low birth weights. We conclude that fluorescein angiography does not cause a high rate of birth anomalies or complications during pregnancy.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Syndrome of renal, genital and feet malformations.

We report a 2 months old girl affected by renal hypoplasia, genital abnormalities, syndactyly and a pattern of minor anomalies. Although the pattern of malformations overlaps the Townwes-Brock syndrome and that reported by Green et al in 1996, differential diagnosis was made with other several syndromes including acral and renal anomalies.

Congenital Abnormalities↗
PubMed2003

Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb.

doubleridge is a transgene-induced mutation characterized by polydactyly and syndactyly of the forelimbs. The transgene insertion maps to the proximal region of chromosome 19. During embryonic development of the mutant forelimb, delayed elevation and compaction of the apical ectodermal ridge (AER) produces a ridge that is abnormally broad and flat. Fgf8 expression persists in the ventral forelimb ectoderm of the mutant until E10.5. Strong expression of Fgf8 and other markers at the borders of the AER at E11.5 gives the appearance of a double ridge. At E11.5, apoptotic cells are distributed across the broadened ridge, but at E13.5, there is reduced apoptosis in the interdigital regions. The Shh expression domain is widely spaced at the posterior margin of the AER. The doubleridge AER is morphologically similar to that of En1 null mice, but the expression of En1 and Wnt7a is properly restricted in doubleridge, and the dorsal and ventral structures are correctly determined. doubleridge thus exhibits an unusual limb phenotype combining abnormal compaction of the AER with normal dorsal/ventral patterning.

Animals↗
PubMed1989

Surgical treatment of thoracic deformity in Poland's syndrome.

In 1841, Poland described congenital deficiency of the pectoralis major and minor muscles associated with syndactyly. This syndrome is a spectrum, often involving chest wall and breast deformity as well. Identification of the various musculoskeletal components involved permits optimal thoracic reconstruction in the small proportion of patients who will require it. From 1955 to 1988, 75 patients (40 males and 35 females) with Poland's syndrome were treated or evaluated. Patients with isolated deficiencies of the pectoral muscles, breast, or hand deformity were excluded. The complex was right-sided in 44 patients, left-sided in 30, and bilateral in one. The pectoralis minor and the costal portion of the pectoralis major muscle were absent in all patients. Hand anomalies were present in 50 patients. Athelia and/or amastia were noted in 37 patients. In ten patients, the rib cage deformity required reconstruction, and in three cases, rib or cartilage grafts were needed for complete repair. Often unappreciated in these cases is the significant rotation of the sternum toward the involved side and contralateral carinate deformity. Correction is achieved by bilateral subperichondrial costal cartilage resection and sternal osteotomy (seven of ten patients), thus allowing anterior displacement and orthorotation of the sternum. Chest wall reconstruction must be tailored to the requirements of each patient. No intraoperative or postoperative complications occurred in these ten patients. In males without rib cage deformity, generally no treatment is required to replace the absent pectoral muscles, although in two cases rotation of the latissimus dorsi muscle was performed. In all females, reconstruction of the ipsilateral breast is required at full development.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1997

Neonatal manifestations of congenital dyserythropoietic anemia type I.

Congenital dyserythropoietic anemia type I is a rare inherited bone marrow disorder characterised by macrocytic anemia with pathognomonic morphological ultrastructural features in erythroid precursors. The disease is usually not diagnosed in the neonatal period. In a retrospective study of 31 patients we found that 17 were first seen in the neonatal age with significant anemia (birth hematocrit 0.34 +/- 0.07); 14 of the 17 infants also had early jaundice. Six infants were small for gestational age and two had syndactyly. Although rare, congenital dyserythropoietic anemia type I should be considered in the differential diagnosis of neonatal anemia.

Anemia, Dyserythropoietic, Congenital↗
PubMed1998

A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.

We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.

Adult↗
PubMed1998

A large family with type IV radial polydactyly.

This study examines one of the largest pedigrees with radial polydactyly type IV (uncomplicated polysyndactyly) comprising a total of 69 individuals, of whom 26 have been affected over six generations. Typical manifestations of the pedigree were bilateral radial and ulnar digital duplications, as well as syndactyly between the middle and ring fingers and the second and third toes. There was no craniofacial anomaly in any of the 17 cases examined physically. This observation suggests that radial polydactyly type IV and Greig craniofacial-synostosis syndrome with similar digital manifestations are clinically-distinct entities.

Fingers↗
PubMed1978

Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis).

The nature and origin of circular constrictions and intrauterine amputations can be studied more effectively in the fetus than in the newborn. Two cases of fetal micro- and syndactyly secondary to ring constrictions are discussed with respect to morphological processes. The amniotic membranes display active chorionic proliferation in addition to amniotic rupture and passive string formation. Moreover, association between the origin of amniotic bands and preceding amniocentesis seems to be possible in one case though it is difficult to ascertain.

Amniocentesis↗