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PubMedDate not supplied

New case of Beemer-Langer syndrome.

We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines.

Arachnoid Cysts↗
PubMed2004

Brief report: acrocallosal syndrome and autism.

The authors describe a boy presenting with acrocallosal syndrome and autism. Clinical features included craniofacial dysmorphisms, polydactyly, and mental retardation, besides behavioral symptoms compatible with autism. Neuroimaging revealed hypoplasia of the corpus callosum and cerebellar abnormalities. The role of this entity and other associated conditions in autism may be coincidental or reveal new clues to the understanding of autism as a behavioral syndrome.

Agenesis of Corpus Callosum↗
PubMed2006

Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

Abnormalities, Multiple↗
PubMed1995

Bifid epiglottis syndrome.

True bifid epiglottis is an extremely rare laryngeal anomaly, which usually presents in the neonate with symptoms of aspiration and/or airway obstruction. Management is generally supportive observation as the symptoms lessen with age, but rarely tracheotomy is required for airway obstruction. Bifid epiglottis occurs in a syndromic picture with associated anomalies, especially polydactyly, cleft palate and retro/micrognathia but a significant number will have endocrine, gastrointestinal and genitourinary abnormalities. A case of true bifid epiglottis is presented and the literature is reviewed on the subject.

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↗
PubMed2004

Analysis of anatomic variations in cleft hands.

PURPOSE: This study presents an overview of the clinical and x-ray findings observed in 54 cleft hands of 31 patients. The emphasis was on a detailed analysis of typical malformation-associated x-ray patterns such as aplasia and synostosis, with findings arranged as a function of cleft location and of the Manske and Halikis classification. METHODS: The charts and radiographs of 31 patients with 54 cleft hands were reviewed retrospectively and compared with data reported in the literature. Important clinical and x-ray findings as well as the typical morphology of cleft hands were analyzed. Cleft hands were differentiated according to their location and according to the Manske and Halikis classification. In the different locations the deformities were arranged in teratologic sequences. RESULTS: In cleft hands syndactylies were seen in 30 of the 54 hands, most commonly between the ring and the small finger. In 3 hands polydactylies were noted. Analysis of the x-ray morphology showed 2 typical patterns: aplasia and synostoses. Location-specific teratologic sequences showed that radial cleft hands were bilateral more frequently and were associated significantly more frequently with cleft feet. Aplasias predominated in radial cleft hands, whereas synostoses were more common in central cleft hands. In terms of the Manske and Halikis classification the unilateral cleft hands often corresponded to type I whereas bilateral cleft hands with cleft feet mainly were type IV and type V deformities. Cleft hands with synostoses often were seen in types I to III whereas cleft hands with aplasias were classified most frequently as type V. CONCLUSIONS: Analysis of the patients' clinical data and x-rays showed differences between radial and central cleft hands, as well as between the different Manske and Halikis types.

Abnormalities, Multiple↗
PubMed1997

Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.

OBJECTIVE: Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. STUDY DESIGN: The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. RESULTS: The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. CONCLUSION: This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.

Cerebellum↗
PubMed1999

Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome.

PURPOSE: To investigate the nystagmus of twin brothers presenting with spasmus nutans later diagnosed as Bardet-Biedl syndrome. METHODS: The twins presented at the age of 14 months with a presumed diagnosis of spasmus nutans. They were followed clinically and with quantitative electro-oculographic eye movement recordings until the age of 6 years. RESULTS: Polydactyly, truncal obesity, mild delay in cognitive development, visual acuity of 20/100, attenuated retinal vessels and pale disks, and bilaterally almost extinguished scotopic and photopic electroretinograms were found in both brothers. They had fine, fast, pendular, disconjugate, intermittent, oblique nystagmus. No head nodding was observed. CONCLUSION: As described in patients with other retinal diseases such as achromatopsia and congenital stationary night blindness, nystagmus of patients with Bardet-Biedl syndrome can mimic spasmus nutans.

Bardet-Biedl Syndrome↗
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↗
PubMed2000

Otolaryngologic aspects of oral-facial-digital syndrome.

The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eight different types of OFD are discussed, with particular attention to the characteristics of the most interest to the otolaryngologist.

Abnormalities, Multiple↗
PubMed1997

Ulnar dimelia. Is it a true duplication of the ulna?

Ulnar dimelia (mirror hand) is a rare congenital disorder, characterized by duplication of the ulna, absence of the radius and polydactyly. Approximately 60 cases have been reported worldwide. We present a new case, with its own distinguishing features. These features illustrate that the aetiology of ulnar dimelia is probably failure of differentiation of a part of the ray rather than its pure duplication.

Adolescent↗
PubMed2001

Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes.

BACKGROUND: Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes. AIMS: To study occurrence of congenital malformations in infants whose mothers had preexisting or gestational diabetes. STUDY DESIGN: A register study covering over 1.2 million Swedish births in 1987-1997 based on the Swedish health registries. SUBJECTS: We identified from the Medical Birth Registry 3864 infants born of women with preexisting diabetes and 8688 infants born of women with gestational diabetes. OUTCOMES MEASURES: Congenital malformations identified in the Medical Birth Registry, the Registry of Congenital Malformations, and the Hospital Discharge Registry. The rates of congenital malformations among these infants was compared with the population rates. RESULTS: At preexisting diabetes, the total malformation rate was 9.5% while the rate at gestational diabetes was similar to the population rate, 5.7%. At preexisting diabetes, certain conditions were more common than expected: orofacial clefts, cardiovascular defects, oesophageal/intestinal atresia, hypospadias, limb reduction defects, spine malformations, and polydactyly. For some of these conditions, an excess was found also for infants whose mothers had gestational diabetes. Infants with multiple malformations were in excess at preexisting diabetes but not at gestational diabetes but the specific type of malformations involved were similar in the two diabetes groups. CONCLUSIONS: It is suggested that in the group of gestational diabetes exists a subgroup with an increased risk for a diabetes embryopathy, perhaps due to preexisting but undetected diabetes type 2.

Cleft Lip↗
PubMed1995

[Median clefts of the hand. Classification and therapeutic indications apropos of 29 cases].

Based on a series of 29 patients with median clefts of the hand (29 hands), the authors define the place of this malformation, its various clinical features and the therapeutic indications. The series consists of 13 boys and 7 girls, 9 bilateral cases and 11 unilateral cases. Involvement of the feet was observed in 9 cases. Several children also presented other malformations. 16 children were operated (22 hands). Two types of technique were used: simple closure of the cleft (Barsky's operation) and transposition of the index finger according to the Snow-Littler or Miura-Komada techniques. All operated patients were reviewed with a follow-up of more than one year and the results were assessed in terms of three criteria: overall use of the hand, thumb-index finger pinch grip, aesthetic appearance. The authors propose a new classification of median clefts of the hand based on examination of this series of 20 children: simple clefts with more or less complete absence of the middle finger, complex clefts with syndactyly (especially I and II), transverse bone polydactyly, extensive clefts with severe aplasia of the radial segment of the hand. Clinical and radiological examination confirm the experimental studies by Ogino. Barsky's operation gives satisfactory results in simple forms with parallel fingers. Translocation of the index finger to the base of the 3rd metacarpal is necessary in the presence of divergent fingers and syndactyly. Median clefts of the hand are very distinct from median aplasia, which is always unilateral, with no familial nature and no involvement of the feet and which can be classified together with brachysyndactyly. Each case must be studied before deciding treatment, as functional adaptation is always remarkable. The least favourable surgical results are observed in forms with abnormal position of the index finger (malrotation syndactyly). Lastly, the Snow-Littler operation is not devoid of complications.

Child↗
PubMed2002

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.

We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly, syndactyly and brachydactyly and is caused by the expansion of a polyalanine encoding repeat in the 5' region of the Hoxd13 gene. We performed a detailed phenotypic and functional analysis of spdh/spdh embryos using skeletal preparations, histology, in situ hybridization, BrdU labeling of proliferating cells, and in vitro expression studies. The absence of normal phalangeal joints and the misexpression of genes involved in joint formation demonstrate a role for Hox-genes in joint patterning. The spdh mutation results in abnormal limb pattering, defective chondrocyte differentiation, and in a drastic reduction in proliferation. Abnormal chondrocyte differentiation and proliferation persisted after birth and correlated with the expression of the mutant Hoxd13 and other Hox-genes during late-embryonic and postnatal growth.

Animals↗
PubMed1997

Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development.

Sonic hedgehog (Shh) expression in the developing limb is associated with the zone of polarising activity (ZPA), and both are restricted to the posterior part of the limb bud. We show that the expression patterns of Shh and Gli3, a member of the Gli-family believed to function in transcriptional control, appear to be mutually exclusive in limb buds of mouse embryos. In the polydactyly mouse mutant extra toes (Xt), possessing a null mutation of Gli3, Shh is additionally expressed in the anterior region of the limb bud. The transcript of Ptc, the putative receptor for Shh protein, can be detected anteriorly as well. Other genes known to be involved in limb outgrowth and patterning, like Fibroblast growth factor (Fgf), Bone morphogenetic protein (Bmp), and Hoxd are misexpressed in relation to the ectopic Shh expression domain in Xt limb buds. This data suggest that Gli3 is a regulator of Shh expression in mouse limb development.

Animals↗
PubMed2002

Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.

We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.

Abnormalities, Multiple↗
PubMed1996

Three cases of oblique facial cleft.

Three patients with an oblique facial cleft are described. One patient displayed ring constriction, lymphoedema, distal pseudosyndactyly and an occipital encephalocele to which an amniotic band was attached at birth. Therefore, it was obvious that the oblique facial cleft was accompanied by an amnion rupture sequence. These signs were not apparent in the other patients. However, one of the patients demonstrated various anomalies, amongst which syndactyly on the right foot, scoliosis, microcephaly, microphthalmia and corneal opacity suggested that the patient may have been affected by the amnion rupture sequence, except for polydactyly on the left foot, cleft hand and vertebra plana.

Abnormalities, Multiple↗
PubMed2000

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

McKusick-Kaufman syndrome (MKKS, MIM 236700) is a human developmental anomaly syndrome comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP) and congenital heart disease (CHD). MKKS has been mapped in the Old Order Amish population to 20p12, between D20S162 and D20S894 (ref. 3). Here we describe the identification of a gene mutated in MKKS. We analysed the approximately 450-kb candidate region by sample sequencing, which revealed the presence of several known genes and EST clusters. We evaluated candidate transcripts by northern-blot analysis of adult and fetal tissues. We selected one transcript with widespread expression, MKKS, for analysis in a patient from the Amish pedigree and a sporadic, non-Amish case. The Old Order Amish patient was found to be homozygous for an allele that had two missense substitutions and the non-Amish patient was a compound heterozygote for a frameshift mutation predicting premature protein truncation and a distinct missense mutation. The MKKS predicted protein shows amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac and reproductive system development. We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule.

Abnormalities, Multiple↗