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PubMed2000

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are age-dependent. We did not find any phenotypic features that allowed reliable differentiation between the two syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features. We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients.

Abnormalities, Multiple↗
PubMed2000

Joubert syndrome: an affected female with bilateral colobomata.

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.

Abnormalities, Multiple↗
PubMed2001

Clinical aspects of defects in the determination of laterality.

Of individuals in the human population, 99.99% have developed identical thoracoabdominal asymmetry with the cardiac apex, a bilobed lung, the stomach, and the spleen on the left side of the midline, and the vena cavae, a trilobed lung, the appendix, and the larger liver lobe on the right. This arrangement of organs is situs solitus. Occasionally, individuals have a complete, mirror-image reversal of this asymmetry called situs inversus, and 20-25% of those individuals have an autosomal recessive condition, Kartagener syndrome, with ciliary dyskinesia, bronchiectasis, sinusitis, and infertility. Between these extremes of situs solitus and situs inversus lies the spectrum of situs ambiguus, characterized by isomerism, heterotaxy, and multiple malformations in one or more thoracic or abdominal organs. Although most abnormal situs in humans occurs sporadically, growing evidence suggests that interference with normal genetic mechanisms and pathways may be responsible for most cases. Familial cases suggest major effects of both autosomal and X-linked genes with both dominant and recessive expression. Situs inversus and situs ambiguus (SI/SA) occurring in probands who have close relatives with "isolated," nonsyndromic birth defects suggests that some of the pathways important in situs determination may also be involved in causing sporadic malformations not obviously associated with a defect in laterality determination. Human phenotypes of interest include the association of SI/SA with short rib-polydactyly syndromes and renal-hepatic-pancreatic dysplasia, and with agnathia and holoprosencephaly. Further elucidation of the developmental pathways involved in left-right axis determination should shed light on the causes of and relationships among these human phenotypes.

Animals↗
PubMed2001

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.

Abnormalities, Multiple↗
PubMed2001

Chondroectodermal dysplasia: a case report.

Chondroectodermal Dysplasia is a disease complex consisting of bilateral manual polydactyly, chondrodysplasia of long bones resulting in acromelic dwarfism, hydroitic ectodermal dysplasia affecting principally the nails, teeth and hair and congenital heart malformations. It is necessary to identify this disease at its early stage in order to render prompt treatment. The oral manifestations are characteristic for this particular disease so that a dental surgeon can identify this condition and refer the case to a cardiologist and orthopedician for corrective surgeries. In this article, a case of a 2 1/2-year old child with chondro-ectodermal dysplasia is presented along with radiographic investigations and treatment plan.

Child, Preschool↗
PubMedDate not supplied

Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].

The term hypomelanosis of Ito (HI) has been used as a diagnosis for individuals with swirly hypopigmentation or depigmentation distributed along the lines of Blaschko. HI should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. We report a six-month-old severely motor and mental retarded boy with these typical cutaneous lesions associated with extracutaneous features, including facial dysmorphism, polydactyly, and inguinal hernia. The cytogenetic examination of lymphocytes demonstrated a mosaicism of 46, XY, der (13;13) (q10;q10), +13/46, XY. This is the first case reported in the literature showing an association between phylloid pigmentary pattern of hypomelanosis of Ito and trisomy 13 mosaicism.

Chromosomes, Human, Pair 13↗
PubMed2002

[Hydrometrocolpos: prenatal diagnosis. A case report].

Hydrometrocolpos is cHaracterized by a vaginal obstruction with cystic dilatation of uterus and vagina caused by accumulation of cervical and endometrial mucus. It could be in association with other malformations, such as postaxial polydactyly, anal atresia, esophageal atresia, renal agenesis, genital anomalies, cardiopathy or autosomal recessive disorder. The appropriate prenatal detection with the help of prenatal ultrasonography differential diagnosis and early treatment and prevention of complications.

Adult↗
PubMedDate not supplied

Developmental abnormalities induced by X-irradiation in p53 deficient mice.

In order to assess the influence of p53 inactivation on radiation-induced developmental effects, male mice heterozygous for the wild-type p53 allele (mimicking the human Li-Fraumeni syndrome) were crossed with C57BL females, and their heterozygous p53+/- progeny were mated with each other to obtain p53+/-, p53-/- and p53+/+ embryos. Pregnant females were X-irradiated with 0.5 Gy on days 1 (pre-implantation period), 8 or 11 (organogenesis period) of gestation. Dissection of the pregnant females occurred on day 19 of gestation. The p53 genotype of the foetuses was determined by PCR from small pieces of soft tissues. Exencephaly was the only external malformation found in the control group. It affected essentially p53-/- female foetuses. A number of p53+/- and p53+/- control foetuses also showed dwarfism, or underdevelopment. In the group irradiated on day 1, the frequency of abnormal foetuses was, paradoxically, lower than that found in the control group. As in that group, exencephaly and dwarfism constituted the only anomalies that were found. Exencephaly affected only homozygous p53-/- females, while dwarfism concerned either p53-/- or p53+/- foetuses, with a majority of females. Irradiation on day 8 of gestation induced a significant increase in the frequency of abnormal foetuses, compared to the control group. Various malformations were observed in addition to exencephaly, including gastroschisis, polydactyly, cephalic oedema and cleft palate. All malformed foetuses were either homozygous p53-/- or heterozygous p53+/- while most affected foetuses were females, as was the case for dwarf individuals. Irradiation on day 11 did not cause an increase in the frequency of abnormal foetuses, in comparison with the controls. However, a large spectrum of external malformations was again noticed, as in the group irradiated on day 8. All affected foetuses were homozygous p53-/- and there were slightly more abnormal females than males (3 out of 5). No dwarfs were found in this group. Overall, these results confirm the importance of the p53 tumour-suppressor protein for normal embryonic development. They clearly show that homozygous p53-/- (or heterozygous p53+/- to a lesser extent) foetuses are more at risk for radiation-induction of external malformations during the organogenesis period, and that the risk of developing such malformations is much higher for females than for males. In contrast to results published very recently by others, we found that malformed foetuses resulting from an X-irradiation with a low-dose during the highly sensitive period of gastrulation are able to survive to birth.

Abnormalities, Radiation-Induced↗
PubMed2000

[An epidemiological investigation of anotia and microtia in China during 1988-1992].

OBJECTIVE: To investigate the epidemiological characteristics of cases with anotia and microtia in China. METHOD: The birth defect monitoring program was undertaken by a hospital-based monitoring method in 443-588 hospitals from 30 provinces, cities and autonomous regions across China. Data including intrauterine death and stillbirth from 28 weeks of gestation to a period of 7 days postpartum were collected between 1988 and 1992. RESULTS: A total of 3,246,408 births was monitored from 1988 to 1992, in which 453 cases had anotia and microtia. The average incidence was 1.40 per 10,000 during the five-year period. The decreased tendency of incidence was noted during the period (chi 2 = 5.5588, P < 0.05). The incidence in the urban area was significantly higher than that in the rural area. There was no sex difference in the incidence of anotia and microtia. The incidence varied among 30 provinces with highest incidence in Xinjiang province (2.08 per 10,000 births) and lowest in the Inner Mongolia Autonomous Region (0.33 per 10,000 births). In cases with the defects of anotia and microtia, 60.4% were accompanied with other congenital malformations. The proportion of multiple malformations with microtia and anotia was significantly higher than that of isolated case (chi 2 = 36.9277, P < 0.01). The highest incidence of concurrent malformations was anophthalmia or microphthalmia (13.1%), followed by facial cleft (12.6%), neural tube defects (10.0%), limb reduction defects (9.6%) and polydactyly (5.4%). There were also 3.5% cardiac defects. CONCLUSIONS: The prevalence of anotia and microtia varied among provinces across China. The high proportions of cases with anotia and microtia had multiple malformations. Therefore, careful examination of other malformations in patients with anotia and microtia is necessary.

Abnormalities, Multiple↗
PubMed2003

Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.

We report the case of a 29-year-old patient, who suffered from drug resistant laughing seizures since childhood. The clinical examination was normal, except for sequelae of hand and feet surgery during infancy for post-axial polydactyly. Cerebral MRI showed a hypothalamic hamartoma. The association of complex limb abnormalities with hypothalamic hamartoma lead to the diagnosis of Pallister-Hall syndrome. This syndrome is related to a mutation of gene GLI3, located on chromosome 7p13, and its inheritance is autosomal dominant. In the case of laughing seizures, a cerebral MRI should be performed to look for a hypothalamic hamartoma. The observation of such lesions indicates the necessity of standard radiographies of the hands and feet, to search for associated abnormalities. These findings might help to recognize a Pallister-Hall syndrome, thus allowing genetic counseling.

Adult↗
PubMedDate not supplied

Pseudo-trisomy 13 syndrome: report of one case.

A new syndrome associated with holoprosencephaly, midline facial defects and postaxial polydactyly but normal chromosomes was described. The term "pseudo-trisomy 13 syndrome" was used because of the resemblance to trisomy 13. Only a few cases have appeared in the literature, and this is the first chinese case.

Abnormalities, Multiple↗
PubMed1992

Taurodontism and pyramidal molars.

The present study was conducted to investigate the occurrence of taurodontism and pyramidal molars in Goa children, hitherto considered rare in Indians. Radiographs of 300 children of 9 to 13 years were evaluated. The criteria of Keene (1966) was used to designate taurodonts. Ten children showed taurodontism: involving mandibular second molars in eight cases, maxillary first molars in three cases; and pyramidal molars in three cases, four cases showed associated findings. Hypodontia of one to fourteen teeth was observed in all four cases. In addition one case showed thinning of maxillary central incisors, rotation of lateral incisors, impacted supernumerary and a canine and polydactyly of hands and feet. The condition does not appear rare in this population group.

Adolescent↗
PubMed1992

Acute respiratory failure secondary to a complete tracheal ring.

This is a case presentation of a neonate with McKusick-Kaufman Syndrome (hydrometrocolpos, polydactyly and congenital heart disease) accompanied by a complete tracheal ring in the distal trachea. This undiagnosed anomaly caused acute respiratory failure after another surgical procedure. Emergent bronchoscopy revealed the diagnosis and the ring was successfully dilated. This is the only known survivor of a complete tracheal ring associated with this syndrome.

Female↗
PubMed1963

The D trisomy syndrome: a case report with a description of ocular pathology.

A male infant with trisomy of one of the 13-15, or D, group of autosomes is described. The infant survived for only a few hours and had the following congenital abnormalities: defect of the scalp and underlying vertex of the skull, hemangioma, microphthalmia, cleft palate, ulnar deviation of forearms and wrists with flexion deformity of the fingers, polydactyly of the feet, interauricular septal defect, cryptorchidism and polycystic kidneys. Retinal dysplasia was the major abnormality in the microphthalmic eye.The congenital anomalies caused by D trisomy are sufficiently characteristic for the chromosomal error to be suspected in a newborn infant. A chromosome analysis is advisable for confirmation of the diagnosis.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ullrich-Feichtiger syndrome in a 3-year-old boy].

A case of a 3 year old boy with Ullrich-Feichtiger syndrome is presented, because of the rarity of this syndrome. Ullrich-Feichtiger syndrome diagnosis was based on the following clinical signs and symptoms: a) micrognathia with several teeth developmental abnormalities; b) polydactyly (six toes); c) varied genital malformations; d) multiple ocular abnormalities. Cause of these multiple malformations remains unclear.

Abnormalities, Multiple↗
PubMed2003

Alobar holoprosencephaly: report of two cases with unusual findings.

Holoprosencephaly, a disorder resulting from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We report on 2 cases of alobar holoprosencephaly, with similar physical findings, including microcephaly, microphthalmia, cebocephalus, choanal atresia, pseudo cleft palate, distended abdomen, and acrocyanosis. The brain echogram of these 2 patients demonstrated fused thalami and a single large U-shaped ventricular cavity. Chromosome studies of these 2 patients were normal. The findings of the autopsies confirmed the clinical presentations. One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. The other had the rare anatomical finding of a polylobuated spleen. Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is recommended.

Female↗
PubMedDate not supplied

Bardet-Biedl syndrome associated with vaginal atresia: a case report.

This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobile, painful, nonfixed mass of 6 cm in diameter in the pelvic region; a palpable cystic mass in front of the rectal wall; and no vaginal opening. Secondary sex characteristics were determined. The vaginal atresia was distinguished from vaginal agenesis by the presence of proximal vagina in radiological examination.

Adolescent↗
PubMedDate not supplied

Meckel Gruber syndrome: a case diagnosed in utero.

A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a previous malformed stillborn with anencephaly, meningomyelocele, polydactyly and ambiguous genitalia. This was the first prenatally diagnosed case ever reported in Turkey. The clinical, computed tomography and postmortem findings and the related literature are reviewed.

Abnormalities, Multiple↗