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PubMed1989

Hypogenitalism in the acrocallosal syndrome.

We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. He had unusual facial appearance, postaxial polydactyly with unilateral soft tissue syndactyly of fingers, mental retardation, and absence of corpus callosum. Findings in the present case were compared with those of previously reported cases. Other syndromes associated with agenesis of the corpus callosum must be differentiated. The main differences between the acrocallosal syndrome and the Greig syndrome are outlined with particular emphasis on digital anomalies. The acrocallosal syndrome is an autosomal recessive trait with variable expressivity. Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1989

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.

We report a 6-month-old boy, born of consanguineous (first-cousin) parents (F = 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small "blind dimple" in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and halluces. This association of anomalies suggests the diagnosis of a "new" type of acro-fronto-facio-nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.

Consanguinity↗
PubMed1989

Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields.

We report on two unrelated patients with malformations of the lower limbs. One had a unilateral apparent doubling of the volume of the femur with distal bifurcation, shortness of the tibiae, absence of fibulae, and lateral ray deficiencies of both feet. The other had a partial duplication of the distal left femur, hypoplasia and proximal dislocation of the ipsilateral tibia, syndactyly of the right 1st and 2nd toes, and preaxial polydactyly of the left foot. This report supports the hypothesis of Lewin and Opitz on the presence of two distinct fields of development: the fibular and the tibial.

Abnormalities, Multiple↗
PubMed1989

Craniofrontonasal dysostosis with deafness and axillary pterygia.

Craniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. Awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.

Abnormalities, Multiple↗
PubMed1990

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.

A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.

Brain↗
PubMed1990

Terminal deletion 6p23: a case report.

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?

We report on a son and daughter of Ashkenazi-Jewish parents with postaxial polydactyly of the hands and feet associated with syndactyly and brachydactyly, mental retardation, cerebellar hypoplasia, pectus excavatum, mesomelic shortness of the upper and lower limbs, and pretibial dimples. Although this appears to be an example of one of the OFD syndromes and has many similarities to OFD type II, III, IV and VI, it does not fit satisfactorily into any of the types previously described. Thus this may be a new OFD syndrome, although we cannot exclude a possibility that most or all autosomal recessive OFD syndromes are the result of pleiotropy of a single mutation in a homozygous state.

Adolescent↗
PubMed1993

Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3.

Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.

Abdomen↗
PubMed1994

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect.

We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.

Abnormalities, Multiple↗
PubMed1995

Hands and feet in the Apert syndrome.

We studied 44 pairs of hands and 37 pairs of feet in Apert syndrome, utilizing clinical, dermatoglyphic, and radiographic methods. We also studied histologic sections of the hand from a 31-week stillborn fetus. Topic headings discussed include: clinical classification of syndactyly; correlations between types of hands and feet in the same patient; dermatoglyphics; anatomy of the hand; radiologic assessment; comparison with other studies; histologic assessment of the hand; acrocephalosyndactyly vs. acrocephalopolysyndactyly: a pseudodistinction; and some generalizations.

Acrocephalosyndactylia↗
PubMed1995

Linkage of preaxial polydactyly type 2 to 7q36.

We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds.

Base Sequence↗
PubMed1995

Two craniosynostotic patients with 11q deletions, and review of 48 cases.

Many chromosomal abnormalities have craniofacial manifestations. One such abnormality, partial monosomy of chromosome 11q, is associated with metopic synostosis and resultant trigonocephaly. We reviewed 48 published cases of 11q deletions and translocations. Eighty percent were associated with abnormal head shape. Also commonly found were hypertelorism, ptosis of the eyelids, wide or low nasal bridge, apparently low-set malformed ears, down-turned mouth, micro/retrognathia, digital and cardiac anomalies, and psychomotor retardation. We report on two patients referred for abnormal head shape. The first case had brachycephaly, flat occiput, hypertelorism, and maxillary hypoplasia. Karyotype was 46,XY,del(11)(q24.1-->qter). The second patient had trigonocephaly, hypotelorism, posteriorly angulated ears, horizontal crease below his lower lip, syndactyly, shawl scrotum, cryptorchidism, and inguinal hernias. Karyotype showed partial trisomy of chromosome 4q as well as partial monosomy of 11q [46,XY,11,+der(11)t(4;11) (q31.3;q25)], a combination not previously reported. Deletions of 11q appear to produce a wide spectrum of abnormalities.

Child↗
PubMed2003

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000, 2002]. The patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. In order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. The average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements.

Adolescent↗
PubMed2003

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MID1, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MID1 gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X-linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.

3' Flanking Region↗
PubMed2003

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error.

Complete or mosaic trisomy for all of chromosome 1q has been seen rarely in a recognized pregnancy. A patient presented with twins following in vitro fertilization (IVF). Ultrasound showed twin A to have a diaphragmatic hernia, thick nuchal fold, and subtle intracranial abnormalities. Twin B appeared normal and a thick dividing membrane was seen. Amniocentesis of twin A showed a male karyotype with mosaic trisomy 1q in 57% of cells resulting from a translocation between chromosomes Yq12 and 1q12. Parental karyotypes were normal. The twins were delivered at 33 weeks. Twin A died at 1 hr of life. Autopsy confirmed the left diaphragmatic hernia and hypoplastic lungs. Autopsy also revealed a partial cleft palate, syndactyly of the second and third toes bilaterally, external deviation of the left 5th toe, and contractures of the index fingers bilaterally. A recent report documented formation of a chimera resulting from embryo amalgamation after IVF. Given the rarity of the cytogenetic findings in our case, we sought to determine if the mosaicism was a result of chimera formation related to the IVF. Thirteen polymorphic loci throughout the genome, in addition to four on 1q and four on 1p, were amplified by PCR. Only two alleles were observed at each of these loci in twin A, one paternal and the other maternal. We present further clinical findings of this case with a rare cytogenetic abnormality that appears to have originated from a postzygotic mitotic error and not embryo amalgamation.

Abnormalities, Multiple↗
PubMed2004

Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

This is a 3-year retrospective study of 107 cases presenting with limb anomalies detected either on prenatal ultrasound scan, or after birth. These limb malformations are developmental anomalies, and can be isolated, syndromic, or associated with multiple malformations. Cases were ascertained through the prenatal diagnosis center, the pediatrics department, and the feto-pathology department. Several criteria were analyzed including sex ratio, prenatal diagnosis, karyotype, termination of pregnancies, clinical or pathological examination, pediatric or surgical and/or genetic assessment, and whether or not a diagnosis was made. Positional deformities and syndactyly were excluded. Limb anomalies were detected prenatally in 45% of the cases, and a diagnosis was made in 78%, including isolated, syndromic, or chromosomal anomalies. Sixty-one per cent of the infants had follow-up, either pediatric, surgical, or genetic. Prenatal multidisciplinary assessment is fundamental to assist with counseling, as is the post-natal follow-up of the infant. The diagnosis, if made, will obviously influence the information that will be given to the parents and the management of the malformation. If the pregnancy is terminated, feto-pathological examination is essential to help make a diagnosis, and guide recurrence risks. We are currently undertaking a prospective study, and we will develop a protocol of investigations in the future, depending on the type of the malformation identified.

Female↗