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PubMed2001

Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.

Abnormalities, Multiple↗
PubMed2001

Hypoplastic left heart and postaxial polydactyly.

Two siblings are presented with hypoplastic left heart syndrome and symmetrical postaxial polydactyly affecting upper and lower limbs. This association has not been previously documented. This appears to represent a newly recognized syndrome. The inheritance is likely to be autosomal recessive, but other inheritance patterns cannot be excluded at present.

Abnormalities, Multiple↗
PubMed2002

Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?

Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting palpebral fissures, ptosis and polydactyly are described. There was no hypogonadism or pigmentary retinopathy. They were thin in childhood and while two of the postpubertal sibs have a stocky build none is obese. We propose that this could be a previously unreported autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed2006

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

We present two siblings from unrelated parents presenting with intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation (ectopic neuropituitary gland associated with a hypoplastic adenopituitary in one of them, and a hypoplastic cerebellum and vermis in the other), abnormal hair with temporal balding, a striking facial dysmorphism and, at least in the child who survived, postnatal growth retardation and severe developmental delay. This probably represents a novel syndrome.

Choristoma↗
PubMed2002

Hydrocephalus manifestation in the genetic polydactyly/ arhinencephaly mouse (Pdn/Pdn).

The genetic polydactyly/arhinencephaly mouse, Pdn/Pdn, exhibits severe polydactyly both in the fore- and hindlimbs, hydrocephalus, and agenesis of the olfactory bulbs, corpus callosum, and anterior commissure. The mechanism of hydrocephalus manifestation in Pdn/Pdn was investigated in the present study. Ink was injected into the left lateral ventricle in the Pdn/Pdn and +/+ newborn mice. After incubation at 32 degrees C for different time intervals, the heads were fixed in Bouin's solution and were subsequently decalcified in 0.5 mol/L of EDTA solution, paraffin sectioned, and stained with hematoxylin and eosin. Ink spread into the 3rd and right lateral ventricles and flowed to the 4th ventricle and Magendie's foramen rapidly in Pdn/Pdn mice. This rapid spread was due to the dilatation of the interventricular foramen and that the lateral ventricle was directly connected with enlarged 3rd ventricle in Pdn/Pdn. In spite of the rapid spread of ink in the cerebrospinal fluid pathway, ink was not observed in the subarachnoid space around the superior sagittal sinus at 3.5 or 10 hours in Pdn/Pdn mice. The superior sagittal sinus was narrower in Pdn/Pdn than in +/+, and the arachnoid villi were not observed in Pdn/Pdn. From these observations, we suggested that absorption of cerebrospinal fluid from the arachnoid villi in the superior sagittal sinus stagnated and that stagnation of the fluid in the ventricles was the cause of hydrocephalus in Pdn/Pdn mice.

Animals↗
PubMed1985

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The considerable overlap of supposedly distinctive features displayed by the three main forms of SRPS is suggestive of a single locus mutation with variable expressivity, particularly for types I and III, possibly related to different mutant alleles and secondary intrauterine modification of the phenotype. All four cases showed anomalous sexual development. In spite of testicular differentiation in all four and a 46, XY karyotype in the two on whom chromosome studies were done, two infants were phenotypic females and two had ambiguous genitalia. A definitive diagnosis of SRPS was made at 26 weeks' gestation in a pregnancy at risk.

Chromosome Mapping↗
PubMed1993

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.

Abnormalities, Multiple↗
PubMed1997

Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.

A healthy, non-consanguineous couple had a son with complete situs inversus viscerum (including dextrocardia but without other cardiac defects), broad thumbs and big toes, postaxial polydactyly, average intelligence and length proportion of the extremities, and a normal face. The common cause of these defects may have a role in the origin of sidedness and symmetry in morphogenesis.

Humans↗
PubMed1997

Congenital tibial aplasia with preaxial polydactyly. A case report.

An anatomical study of a left lower limb with congenital tibial aplasia and preaxial polydactyly amputated at 10 months of age was carried out. The tibia was replaced by a fibrous band (a band of connective tissue) and there were four cuneiforms, six metatarsal bones and seven toes. The second metatarsal bone showed characteristics of the hallux. An intermuscular septum which showed an orifice for the anterior tibial artery was found on the medial side of the leg and foot. All the muscles of the leg and foot were present except for the tibialis posterior muscle, which was replaced by two atypical muscles. No muscular attachments reached the fibrous band. Several intertendinous connection bands were found. Also, an accessory muscular belly split from the tibialis anterior tendon and attached to the common flexor tendinous sheet of the foot. An unusual motor branch of the deep peroneal nerve ran together with this belly to supply the intrinsic muscles of the hallux. We also observed other minor anomalies of the nerve pattern. The arterial pattern was complete, except for some arteries which showed both an anomalous origin and course. The findings of this study suggest that the development of the skeletal elements plays an important role in the differentiation of the muscles, tendons, arteries and nerves. We postulate that a dysmorphogenic event involving the development of the tibial field of the limb could give rise to both defective histodifferentiation of the tibia and defective programmed cell death in the pre-hallucial anlage. These anomalies would determine secondary adaptations of muscles, tendons, vessels and nerves of the limb.

Abnormalities, Multiple↗
PubMedDate not supplied

Preaxial polydactyly and other defects associated with Klippel-Feil anomaly.

A 5-year-old girl with Klippel-Feil anomaly and bimanual polydactyly of triphalangeal thumb is described. The main findings include--in addition to the classical congenital fusion of cervical vertebrae and the clinical triad of short neck, limitation of head and neck movement and low-set posterior hairline--several associated abnormalities: scoliosis, spina bifida occulta, absence of ribs, conductive hearing loss, mirror movements, unilateral renal ectopia with dilation of the collecting system, and microtia. The hand malformation appears to represent a previously unreported defect associated with Klippel-Feil anomaly.

Child, Preschool↗
PubMed2000

Distribution of polarizing activity and potential for limb formation in mouse and chick embryos and possible relationships to polydactyly.

A central feature of the tetrapod body plan is that two pairs of limbs develop at specific positions along the head-to-tail axis. However, the potential to form limbs in chick embryos is more widespread. This could have implications for understanding the basis of limb abnormalities. Here we extend the analysis to mouse embryos and examine systematically the potential of tissues in different regions outside the limbs to contribute to limb structures. We show that the ability of ectoderm to form an apical ridge in response to FGF4 in both mouse and chick embryos exists throughout the flank as does ability of mesenchyme to provide a polarizing region signal. In addition, neck tissue has weak polarizing activity. We show, in chick embryos, that polarizing activity of tissues correlates with the ability either to express Shh or to induce Shh expression. We also show that cells from chick tail can give rise to limb structures. Taken together these observations suggest that naturally occurring polydactyly could involve recruitment of cells from regions adjacent to the limb buds. We show that cells from neck, flank and tail can migrate into limb buds in response to FGF4, which mimics extension of the apical ectodermal ridge. Furthermore, when we apply simultaneously a polarizing signal and a limb induction signal to early chick flank, this leads to limb duplications.

Animals↗
PubMed1984

Short rib-polydactyly syndrome type II (Majewski syndrome): a case report.

The Majewski type of Short Rib-Polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes.

Female↗
PubMed2006

Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester.

Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies.

Adult↗
PubMed1998

Polydactyly of the foot. Overview with case presentations.

The authors offer two unique case presentations of pedal polydactyly as well as a general discussion of this congenital anomaly. This presentation demonstrates how a common condition has very individualized treatment plans that are based on communication between the patient and the podiatric surgeon.

Adolescent↗
PubMed1999

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had postaxial polydactyly of both hands and one foot. In addition, there was evidence of aplasia of the pituitary gland on MRI scan in both of them with evidence of hypopituitarism. Both responded well to hormone replacement therapy with improvement in their linear growth and mental ability. These cases may represent a new autosomal recessive midline defect syndrome with features overlapping OFDS VI. Alternatively the features in these children could represent variability within OFDS VI.

Blood Chemical Analysis↗
PubMedDate not supplied

A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.

A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases.

Adult↗
PubMed2004

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.

Congenital anomalies involving tibial aplasia are rare. Recently, four children with an unusual combination of limb anomalies, facial dysmorphism and genital hypoplasia have been reported. All affected children reported were male. One case noted father to son transmission, implying autosomal dominant inheritance. We report the first female patient with this syndrome. The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, blepharophimosis, a flat nasal bridge with a small nose and a small mouth. Consistent with reports in males of a micropenis and hypoplastic scrotum, our patient had absent labia minora and a very small clitoris. Her father had very minor anomalies suggestive of somatic mosaicism or marked variability. Mouse models affecting limb development are powerful tools in the study of human syndromes. The clinical phenotype of patients with this syndrome is reminiscent of some luxoid mouse mutants suggesting Alx4 and related members of the paired homeodomain class as candidate genes. ALX4 haploinsufficiency in humans causes parietal foramina, which one patient with this syndrome was reported to have. Sequencing of coding exons of ALX4 and its related homologue, ALX3, in the proband failed to reveal coding sequence alterations. Our father/daughter pair is the second family reported, supporting a dominant mode of inheritance. Moreover, the very mild phenotype in the father suggests the need for very careful attention to parental examination in such cases.

Abnormalities, Multiple↗