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PubMed1999

Bifid epiglottis.

Bifid epiglottis is a rare congenital defect that is often associated with other congenital annomalies. The most common defect associated with a bifid epiglottis are anomalies of the hands and/or feet (90%) while the most dangerous and potentially lethal anomaly if not recognized and treated are hypothalamic hamartomas and hypopituitarism (50%). A bifid epiglottis will often result in severe respiratory distress secondary to laxity of the cartilage and chronic aspirations, which may require surgical intervention. We present the case of a 10-week-old child who was sent for evaluation of stridor and aspiration. Office laryngoscopy demonstrated a true bifid epiglottis and further evaluation demonstrated a hypothalamic hamartoma consistent with Pallister-Hall syndrome. Management of our case as well as those previously presented in the literature are reviewed.

Child, Preschool↗
PubMed1997

Upper limb triplication with radial dimelia.

We report a very unusual case of upper limb triplication. The fused upper two limbs present as a duplicated mirror hand, joined along the ulnar side from the small finger up to the humerus. This exceptional abnormality further corroborates the theory that the development of the more distal segments of the limb is determined by the more proximal segments.

Amputation, Surgical↗
PubMed1998

Classification of the mirror hand-multiple hand spectrum.

A rare variant of mirror hand is described. The hand had eight fingers and the forearm contained an ulna and a hypoplastic radius. A classification of the mirror hand-multiple hand spectrum is offered and its embryology discussed.

Fingers↗
PubMed1995

Surgical classification of central deficiency according to the thumb web.

A classification for congenital central deficiency is presented. In contrast to previous classification schemes, this proposed classification is based on the characteristics of the thumb web, which are more important to the function of the hand than are the central deficiency features. Five progressive narrowings of the thumb web are identified: normal web (type I), narrowed web (type II), syndactylized web (type III), merged web (type IV), and absent web (type V). Forty-six central-deficient hands were classified and reviewed. The progressive narrowing of the thumb web correlated with progressive severity of the central defects. The proposed classification system guides and directs surgical recommendations.

Female↗
PubMed1996

A rare variant of mirror hand: a case report.

Mirror hand is one of the rarest congenital differences of the upper extremity. Typically, there is absence of the radius, duplication of the ulna, and 7 digits in mirrored symmetry about the middle finger. We report a case of a rarer subset of hand duplication in which there is a normal radius and ulna and a hand with 8 digits. The patient underwent surgery to excise the radial 3 digits and to reconstruct the remaining radial digit to function as an opposable, 2 phalanx thumb. Wrist extension was augmented by transferring the digital extensors from the excised fingers to the radial wrist extensors.

Hand Deformities↗
PubMed1997

Acrocallosal syndrome: a case report.

This report describes the case of an 18-month-old Caucasian male infant with clinical and radiological findings indicative of the Schinzel acrocallosal syndrome. He was born to non-consangiuneous parents. His father had been diagnosed with Greig syndrome. The patient underwent surgery for preaxial polysyndactyly of both hands and feet. The similarity to the Greig syndrome is discussed. It is possible that both the acrocallosal syndrome and the Greig syndrome are variant expressions of the same autosomal dominant condition. Surgery may improve thumb opposition and shoe wear.

Abnormalities, Multiple↗
PubMed1995

[Surgical treatment of duplication of the thumb. Apropos of 106 cases].

The surgical treatment of thumb duplication remains difficult, the sequelae usually observed are aesthetic (ungual dystrophy, hypoplastic pulp, clinodactyly) or functional (joint stiffness or instability). In order to clarify our therapeutic approach, we classify duplications into two types: proximal duplications (Wassel stage IV, V and VI) and distal duplications (Wassel stage I, II and III). Our experience is based on 106 cases operated over the last 15 years (1977). Our indications and operative techniques have progressed since 1988, in particular, we no longer perform Bilhaut-Cloquet operation, and prefer to perform the first operation before the age of one year. Resection of the hypoplastic supernumerary thumb. Preservation of the pulp skin to reconstitute the paronychium and pulp of the remaining thumb. Resection of supplementary joint facets. Meticulous repair of the capsulo-ligamentus apparatus by means of a capsulo-periosteal flap taken from the "sacrificed" thumb. Tendinous reequilibration and reinsertion of thenar muscles. We do not perform systematic subcapital osteotomy. When necessary, this procedure is performed during a complementary operation at the age of 2 to 3 years. Since the introduction of these technical modifications, our functional and aesthetic results have improved. Temporary overcorrection of the pulp is necessary. Parents must be advised that this deliberately hypertrophic appearance becomes normal with growth.

Dermatologic Surgical Procedures↗
PubMedDate not supplied

Developmental toxicity of acephate by gavage in mice.

Acephate (O,S - dimethyl acetyl phosphoramidothioate), an organophosphate insecticide, was evaluated for its potential to produce developmental toxicity in mice after oral administration. Pregnant ICR (CD-1) mice were given sublethal doses of 0 (distilled water), 7, 14, and 28 mg/kg/day acephate by gavage on Gestation Days 6 through 15. Maternal effects in the 28 mg/kg/day dose group included cholinergic signs, decreased body weight at 15 and 18 days of gestation, and decreased absolute and relative brain weight. Placental weight was also decreased and liver weight was increased in the high dose group. Absolute and relative brain weight was decreased in the 14 mg/kg/day group. No maternal effects were apparent in the 7 mg/kg/day dose group. Maternal exposure to acephate during organogenesis significantly affected the number of implantations, number of live fetuses, number of early resorptions, mean fetal weight, and the incidence of external and skeletal malformations in the 28 mg/kg/day dose group. No visceral malformations were observed. On the basis of the present results acephate showed maternal and developmental toxicity at 28 mg/kg/day.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

The epidemiology of preaxial limb malformations.

The epidemiology of preaxial limb malformations was studied in an effort to find similarities and differences between different types that could help to define suitable groups of malformations for etiologic studies. Material from three large congenital malformation registers was used, with a total of 1646 infants with such malformations among over 5 million births. We compared different types of preaxial malformations with respect to bilaterality, maternal age and parity, racial differences, sex distribution, twinning, and associated malformations. From many epidemiologic aspects, different types of preaxial malformations showed similarities, but there were some distinct differences between upper and lower limb anomalies. We conclude that in searches for etiologic factors, it may be useful to group all preaxial malformations together but to differentiate between upper and lower limb defects.

Abnormalities, Multiple↗
PubMed1996

Doublefoot: a new mouse mutant affecting development of limbs and head.

The mutant doublefoot, Dbf, of the mouse arose spontaneously, and was shown to be inherited as an autosomal dominant, mapping 9-13 cM proximal to leaden, In, on chromosome 1 and showing no recombination with the microsatellite markers D1Mit24 and D1Mit77. In heterozygotes the phenotype includes many extra toes on all four feet, and the tibia and fibula may be reduced and bowed. The head is shortened and broad and the eyes are held half-closed, and some animals develop hydrocephalus. The tail is kinked and abnormally thick, and the soles of the feet are swollen. Growth is retarded, viability is reduced, and reproduction is impaired in both sexes. Only about 30% of males are normally fertile, and testis weights and sperm counts may be reduced, although this appears not to be the main cause of poor fertility. In females vaginal opening is delayed and oestrous cycles are irregular, although the animals appear to respond to gonadotrophic hormones. Crosses of Dbf/+ x Dbf/+ are very poorly fertile. Prenatally, Dbf/+ heterozygotes can first be recognized at 11 1/2 days gestation by abnormally broad fore limb buds. Putative Dbf/Dbf homozygotes at 12 1/2 days have similar limbs defects and also split face, due to failure of the maxillae to fuse in the midline. Some homozygotes and a few putative heterozygotes have cranioschisis. At 13 1/2 days, the heads of homozygotes tend to bulge in the frontal region and a bleb of clear fluid is visible medially. At 14 1/2 days Dbf/Dbf fetuses may have oedema and some are dead. From 15 1/2 days onwards no live Dbf/Dbf fetuses have been found. The gene maps close to the locus of Pax3, but crossovers between Dbf and Pax3 have been found, ruling out the possibility that a gain-of-function mutation in Pax3 might be involved.

Animals↗