Postaxial acrofacial dysostosis: Report on two patients

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance. © Wiley-Liss, Inc.     

Postaxial acrofacial dysostosis: report on two patients.

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance.     

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

We reported on 16 new Brazilian patients and review findings in 12 previously reported cases (25 apparently unrelated Brazilian families) from Hospital of Rehabilitation of Craniofacial Anomalies, presenting with Richieri‐Costa–Pereira syndrome. All patients display a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability was also a common finding. The sex‐ratio showed deviation toward to female (1.8F:1M). Recurrence in sibs was observed in nine instances and consanguinity in 11, supporting the hypothesis of autosomal recessive inheritance. Nineteen of the 25 families lived in São Paulo State, seven of them (10 affected individuals) from an isolated region named “Vale do Ribeira.” The geographic barrier of this region associated with the high incidence of the consanguineous matting suggested that this condition is caused by a rare mutation with a founder effect. With the exception of one patient in France, all known cases are of Brazilian origin. The causative gene of this rare syndrome remains unknown. © 2010 Wiley‐Liss, Inc.     

Laryngeal malformations in the Richieri-Costa and pereira form of acrofacial dysostosis

We report on laryngeal malformations in 5 subjects, 4 females and 1 male, with the autosomal-recessive Richieri-Costa and Pereira form of acrofacial dysostosis. Characteristics of the voice are described. © 1996 Wiley-Liss, Inc.     

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients

In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.     

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.     

Nager acrofacial dysostosis: evidence for apparent heterogeneity

Nager acrofacial dysostosis is characterized by malar, mandibular, and maxillary hypoplasia, macrostomia, abnormal ears, and radial defects. The lower limbs are usually normal. Two patients were reported with many of these manifestations, in addition to severe facial clefts and limb deficiency. These more severely affected patients were thought to have a severe form of Nager acrofacial dysostosis or a new syndrome. We report on a patient with limb findings of intermediate severity. This patient also had hydrocephalus, micropolygyria, and tetralogy of Fallot. This may indicate apparent heterogeneity or a single condition with widely variable expression.     

Nager acrofacial dysostosis: male-to-male transmission in 2 families

We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father-to-son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations.     

New acrofacial dysostosis syndrome in 3 sibs

We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.     

Postaxial acrofacial dysostosis: report of a Brazilian patient

We report on a Brazilian child with postaxial acrofacial dysostosis (AFD)-type Genée-Wiedemann. Clinical and genetic aspects of the postaxial acrofacial dysostoses are discussed.     

New form of postaxial acrofacial dysostosis?

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.     

Anomalies in an infant with Nager acrofacial dysostosis

We report on an infant with Nager acrofacial dysostosis, laryngeal and epiglottic hypoplasia, abnormal septation of the right middle lobe of the lung, hypoplastic right first rib, and dislocation of the right hip. These findings suggest the possibility that patients with the Nager syndrome may have other developmental defects in addition to the facial and acral anomalies associated with this syndrome.     

Severe postaxial acrofacial dysostosis: an anatomic and angiographic study

We describe a severe case of postaxial acrofacial dysostosis syndrome [POADS] or Genée-Wiedemann syndrome in a stillborn female. The report includes an arteriographic and anatomic study of the limbs. Previously unreported findings such as hypoplasia of the femora, ossification defect of the ischium and pubis, bilobed tongue, and lung hypoplasia were noted. This case documents further variability in the POADS or Genée-Wiedemann syndrome.     

Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance

We report on a girl with Nager acrofacial dysostosis, three of whose relatives had variable mild anomalies of the thumb. The possible relationship of such minor features to the radial limb anomalies in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.     

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.     

Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings

Laryngeal structural anomalies were described in 13 cases of Richieri-Costa Pereira syndrome, and four previously reported cases were reviewed. The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases.     

Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?

We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical pre/postaxial acrofacial dysostosis, nosologically related to the Genée-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.     

Deletion of 1q in a patient with acrofacial dysostosis

The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin.