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PubMed1997

Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging.

Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of their peripheral blood lymphocyte cultures. Phenotypic heterogeneity was elicited amongst the three Bedouin sibs. The present report confirms the association between a subset of congenital dyserythropoietic anaemia type 1 and a specific form of distal limb anomalies and suggests that other traits, congenital ptosis and low mitotic index, could represent part of the syndrome profile.

Abnormalities, Multiple↗
PubMed2000

A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity.

We report follow-up from birth up to 16 years of age of a patient with a previously undescribed combination of dysmorphic features. These include: intrauterine growth retardation developing to normal adult stature with truncal obesity, asymmetry of the midface skeleton with severe orthodontic problems, brachydactyly of the hands and feet, wide medial phalanges of the fingers, partial soft tissue syndactyly, simian creases and normal mental development. We consider other differential diagnoses and suggest that the patient represents a hitherto undescribed syndrome.

Abnormalities, Multiple↗
PubMed2002

Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.

Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits. The majority of the familial cases are inherited in an autosomal dominant manner. Here we report on nine cases of SHFM in an inbred kindred. A variable intrafamilial expression of the malformation pattern is apparent. Autosomal recessive inheritance and a two-locus model are discussed.

Adult↗
PubMed2003

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.

Patients affected by Pfeiffer syndrome generally present with syndromic craniosynostosis and typical limb defects including broad thumbs, wide halluces with varus deformity, toe syndactyly and sometimes elbow ankylosis. This autosomal dominant condition can be caused by mutations in either fibroblast growth factor receptor gene type 1 or 2 (FGFR1 or FGFR2). We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome. In one family this was the only abnormality.

Acrocephalosyndactylia↗
PubMed2006

Mild case of Curry-Jones syndrome.

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

Abnormalities, Multiple↗
PubMed2005

The middle phalanx in Poland syndrome.

The classic deformity of Poland syndrome consists of the combination of unilateral aplasia of the sternocostal head of the pectoralis major muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. The current study specifically investigates the abnormalities of the middle phalanx in a series of 15 patients with Poland syndrome. The degree of hand hypoplasia and finger brachydactyly was classified into 3 grades: mild (n = 2), moderate (n = 10), and severe (n = 3). The middle phalanges of all fingers in all patients showed abnormalities. The degree of deficiency in the middle phalanx (from mild hypoplasia to aplasia) correlated with the degree of brachydactyly, which in turn correlated with the degree of hand hypoplasia. Several other radiologic features of the hypoplastic middle phalanges were documented, such as the central nidus, the rounded or truncated appearance, and the cone-shaped epiphyses. The embryology of limb development was reviewed and it was proposed that abnormalities of the middle phalanx in Poland syndrome occur as a result of a mild ischemic insult during stage 19 of the embryonic life, leading to an arrest or lack of chondrification of the mesenchymal mass of the phalanx.

Adolescent↗
PubMed2005

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.

Apert syndrome is characterized by craniosynostosis, central nervous system anomalies, midface hypoplasia, and syndactyly. Current research has focused on genetic and neurologic correlates. Cognitive assessment has been primarily limited to global intellectual evaluations, which can fail to detect the diverse cognitive attributes of these children at an individual level. This report describes in detail the neuropsychological profiles of 2 children with Apert syndrome, incorporating clinical, radiographic, molecular and surgical data. One child showed intellectual deficits consistent with a moderate intellectual disability. The second child, while of normal intelligence, displayed neuropsychological deficits associated with anterior-brain-region cognitive functions. These data highlight the diversity of neuropsychological outcomes in Apert syndrome in the same genetic mutation and underline the importance of detailed neuropsychological evaluations as integral to the management protocols of affected individuals.

Acrocephalosyndactylia↗
PubMed2007

Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.

We report a 9-month-old female infant presenting, on the 15th day of life, left tibial agenesis with ectrodactyly, right talipes equinovarus, syndactyly of the second and the third toes of the right foot, an incomplete split right foot, left fibular hypoplasia, bronchial stenosis/hypoplasia, and coarctation of the aortic arch. To the best of our knowledge, coarctation of the aortic arch and bronchial stenosis/hypoplasia have never been reported in the tibial agenesis-ectrodactyly syndrome.

Abnormalities, Multiple↗
PubMed1998

Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice.

The Notch signaling pathway is a conserved intercellular signaling mechanism that is essential for proper embryonic development in numerous metazoan organisms. We have examined the in vivo role of the Jagged2 (Jag2) gene, which encodes a ligand for the Notch family of transmembrane receptors, by making a targeted mutation that removes a domain of the Jagged2 protein required for receptor interaction. Mice homozygous for this deletion die perinatally because of defects in craniofacial morphogenesis. The mutant homozygotes exhibit cleft palate and fusion of the tongue with the palatal shelves. The mutant mice also exhibit syndactyly (digit fusions) of the fore- and hindlimbs. The apical ectodermal ridge (AER) of the limb buds of the mutant homozygotes is hyperplastic, and we observe an expanded domain of Fgf8 expression in the AER. In the foot plates of the mutant homozygotes, both Bmp2 and Bmp7 expression and apoptotic interdigital cell death are reduced. Mutant homozygotes also display defects in thymic development, exhibiting altered thymic morphology and impaired differentiation of gamma delta lineage T cells. These results demonstrate that Notch signaling mediated by Jag2 plays an essential role during limb, craniofacial, and thymic development in mice.

Animals↗
PubMed1993

Clinical criteria for differentiating between recessive and dominant forms of dystrophic epidermolysis bullosa, elaborated from an analysis of 119 cases.

We attempted to establish clinical criteria which differentiated between recessive dystrophic epidermolysis bullosa (RDEB) and dominant DEB (DDEB), since these two groups show prominent differences in prognosis, genetic recurrence risk and response to some types of treatment. The total of 119 cases examined consisted of our own 9 cases (2 of RDEB and 7 of DDEB) and 110 cases (26 of RDEB and 84 of DDEB) collected from the medical literature. They were analyzed by calculating the sensitivity and specificity of ten clinical features. We concluded that, syndactyly, presence of complications, dental lesions, remission-less course, and oral lesions are strongly indicative of RDEB (more than 70% specific). Intractable skin ulcer is suggestive of RDEB (more than 55% specific). Nail lesions, scar and atrophy, milia and pigmentation are not helpful in the differentiation because of their commonality. The proposed criteria are simple, reliable, and practical, providing us with a useful tool for differentiation of RDEB and DDEB in daily practice.

Child↗
PubMed2002

A case of recessive dystrophic epidermolysis bullosa with esophageal stenosis treated with endoscopic bougienage.

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, hereditary, chronic, non-inflammatory mechanobullous disease. Esophageal involvement is invariable in RDEB patients. A 15-year-old girl visited with protracted vesiculobullous skin eruptions since birth. On physical examination, bullae, atrophic scars, milia, crusts and erosions were noted primarily on the distal extremities. Loss of entire nails and syndactyly of the right fourth and fifth toes were seen. Diagnosis of RDEB was confirmed by clinical, histopathologic, immunofluorescent and electron microscopic findings. Endoscopic and esophagographic studies revealed a stenosis and several hemorrhagic bullae and erosions. She successfully underwent bougienage under endoscopic and fluoroscopic control

Adolescent↗
PubMed1976

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.

Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.

Adult↗
PubMed1981

A previously undescribed condition: tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias.

An apparently hitherto undescribed ectodermal dysplasia/malformation syndrome is presented. The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings. The aetiology is unknown. A review of seventeen ectodermal dysplasias is presented for different diagnosis.

Abnormalities, Multiple↗
PubMed1991

Osteochondroma of humerus in focal dermal hypoplasia (Goltz) syndrome.

Focal dermal hypoplasia (Goltz) syndrome was diagnosed in a 26-year-old female subject and her 5-year-old daughter. The mother had been treated surgically for syndactyly in early childhood, and at the age of 12 years had developed a large osteochondroma of the proximal humerus. This is a further bone tumour which should be added to the skeletal manifestations of this syndrome.

Adult↗
PubMed2005

Three cases of focal dermal hypoplasia (Goltz syndrome).

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.

Eye Abnormalities↗
PubMed2006

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

Apert syndrome is characterized by midface hypoplasia, syndactyly of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures. Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding of the dental arch, severely delayed tooth eruption, and dental malocclusion are the main oral manifestations of this syndrome. In this report, a case of Apert syndrome with glucose-6-phosphate dehydrogenase (G(6)PD) deficiency is presented. The patient, a 4-year-old male and the fourth child of healthy parents, was admitted to our department because of delayed tooth eruption. He had all the cardinal symptoms of the Apert syndrome. Clinical examination revealed that primary centrals, canines and first molars erupted; however, primary second molars and laterals had not erupted. The patient had no dental caries. Preventive treatments were applied, and subsequently, the patient was taken to long-term follow up.

Acrocephalosyndactylia↗
PubMed1996

Comparison of demographic and defect characteristics among different developmental stages of congenital limb reduction defects.

This study investigates how the timing of the development of limb reduction defects (LRDs) is associated with selected demographic, medical variables and defect characteristics. The LRD cases (n = 281) were ascertained from the Congenital Malformations Registry of New York State among 1983-1987 births. Cases were classified according to five stages of gestation based on when their earliest LRD developed. A control group consisted of a systematic random sample (n = 327) of non-malformed livebirths. Demographic and LRD characteristics were abstracted from birth certificates and medical charts. Among LRDs, the defects that occurred in the earlier stages of gestation were found to be more complex problems, compared with those developing in the later stages. Middle or late stage LRDs tended to occur more often with syndactyly than early stage LRDs, and had significantly higher frequencies of non-white infants compared with controls. In addition, some perinatal complications, pre-term delivery and low birthweight were positively associated with any LRD. Our findings suggest that the timing of a disturbance in limb development is important in terms of LRD characteristics. Demographics did not vary consistently with the stage of LRD development. Further studies testing this classification technique are suggested.

Adult↗