We describe several members of a family with Van der Woude syndrome, a genetic and congenital malformation syndrome with autosomal dominant inheritance and 70% to 80% penetrance with variable expressivity. It is characterized by clinical signs localized to the face, such as bilateral or unilateral pits on conical elevations in ...

The Melkersson-Rosenthal syndrome (MRS) consists of recurrent edema of the lips, intermittent facial palsy and furrowed tongue. This is the classic triad which defines the syndrome, although it is accepted that the presence of two manifestations or one with a granulomatous cheilitis in the biopsy, are sufficient to make the ...

We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal ...

Amniotic band syndrome is a well described clinical entity presenting with deformities of the limbs, thorax, craniofacial skeleton, soft tissues and umbilical cord, but it still lacks a precise definition and a coherent hypothesis for its pathogenesis. We report on a case of first trimester diagnosis of amniotic band syndrome ...

We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in ...

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and ...

An infant with oculocerebrocutaneous (Delleman) syndrome (1), only 26 cases of which have been reported (2), presented with focal alopecia of scalp, periorbital skin appendages, hypertrophy of the skin (Fig. 1A), left-sided orbital cyst, lid coloboma, cleft palate (Fig. 1B), neonatal seizures, cerebral hemiatrophy, multiple intracranial cystic spaces, and enlarged ...

OBJECTIVE: The objective of this study was to demonstrate that the branchiooculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment. RESULTS: Using an embryologic study, we linked the clinical features and the level of the neural crest deficiency. We report here two cases of BOF syndrome with a particular branchial ...

Like umblical enteric remnants (eg, umblical sinus and omphalomesenteric fistula), enteric remnants can be seen on the dorsal aspect of the body (dorsal enteric sinus, dorsal enteric fistula IDEF], dorsal enteric diverticulum) in conjunction with complete cleft of the vertebral column. Complete cleft of the vertebral column associated with gastrointestinal ...

We evaluated facial features in 9 patients from 7 kindreds with Job syndrome. Consistent features included prominent forehead with deep-set eyes, increased width of the nose, a full lower lip, and thickening of the nose and ears. The mean alar width (Z score = +3.9) and outer canthal distance (Z ...

Craniofacial deformities of 14 patients with amniotic band syndrome at one institution were reviewed for morphologic similarities. In addition to associated cleft lip and palate, vertical and oblique facial clefts, which were not associated with embryologic lines of fusion, were seen. It is hypothesized that the prominence of the nasal ...

Ophthalmic manifestations are a common component of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome; however, few ophthalmic publications have specifically addressed these features. The authors describe a 38-year-old patient with EEC syndrome who demonstrated several associated ocular signs and symptoms. The ophthalmic findings in this patient included bilateral entropion with secondary trichiasis, ...

We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, ...

Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. ...

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone ...

A 43-year-old white man and his 12-year-old daughter both displayed congenital lower lip pits. Since Van der Woude's description of this syndrome more than forty years ago, little attention has been given to this uncommon anomaly, probably due to variable expressivity, incomplete penetrance, and recognition of its clinical stigmata. We ...

Melkersson-Rosenthal syndrome is a rare condition which consists of progressive and recurrent orofacial edema, intermittent facial palsy, and lingua plicata. Labial swelling is the most common feature of this syndrome complex. The lips may enlarge up to three times their normal size, resulting in aesthetic deformity and functional disability. Traditional ...

We report on a girl with Floating-Harbor syndrome, trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity. A review suggests that trigonocephaly may be an important craniofacial manifestation in this syndrome that is recognizable in infancy. With time, this finding appears to become ...

Nevoid basal cell carcinoma syndrome (NBCCS) is rare in black persons. We describe an 11-year-old black boy with NBCCS who presented with exotropia and a painful, expanding, cystic mass in the left posterior alveolar ridge. Further examination revealed odontogenic keratocysts with palmar and plantar pitting. Less than 5% of reported ...

PURPOSE: To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS). METHODS: Two cases of BOFS are reviewed. RESULTS/CONCLUSIONS: Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which ...

Four cases of an until now undescribed syndrome have been observed in Berne in the last 40 years. All four cases are members of the same family and have occurred in three consecutive generations. They present with a U-shaped palatal cleft, microstomia, hypoplasia of the mandibula and a partial anodontia. ...

Binder syndrome has a characteristic clinical appearance including midface hypoplasia, flattened nose, convex upper lip, broad philtrum, crescent-shaped nostrils, and a deep fold or fossa between nose and upper lip. The incisors may be in crossbite with overangulation of the maxillary incisors, and a Class III occlusion is common. Radiographic ...

An apparently new case of the acromegaloid facial appearance syndrome is reported. The main clinical findings were coarse facies and thickened lips, oral mucosa and upper eyelids. The patient also had macrocephaly with an arachnoid cyst in the right middle fossa, an anomaly not previously described in association with this ...

Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it ...

A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched ...

A "new" syndrome was identified by McPherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the ...

We present an infant with the lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan ...

We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on ...

Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in cranial MRI. We ...

OBJECTIVE: Kallmann's syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. The principal endocrine defect of hypogonadotropic hypogonadism is a failure to secrete luteinizing hormone-releasing hormone (LHRH), resulting in underdevelopment of the pituitary gonadotropes and an inability to synthesize and release luteinizing hormone and follicle-stimulating hormone. ...

OBJECTIVE AND DESIGN: The conotruncal anomaly face syndrome (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many discussions about the overlap with velocardiofacial syndrome (VCF). The aim of this study was to clarify the craniofacial characteristics of CTAF ...

A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, such as submucous cleft palate with lip pits and trichorrhexis nodosa. The proposita's mother had similar hair ...

A sixteenth-century illustrated pamphlet from Great Britain suggests that documentary evidence may permit accurate diagnosis of pathological conditions in earlier societies. The document is of particular importance, since the presented congenital abnormalities, including cleft lip, spina bifida cystica, genu recurvatum, and talipes deformity are reported rarely in archaeological skeletal material. ...

The karyotype 49,XXXXY is a rare form of Klinefelter's syndrome. Various anomalies can be found in this variant--more than other variants of Klinefelter's syndrome. Cleft palate is rarely seen among these anomalies. A cleft palate deformity can be diagnosed early and easily. This deformity should cause one to suspect an ...

A case of natal teeth associated with traumatic ulceration to the ventral surface of the tongue (Riga-Fedes syndrome) in a four week old boy is presented. On radiographic examination, two teeth, present at birth, were found to be early erupted deciduous lower central incisors. A family history of natal teeth, ...

Femoral facial syndrome (FFS) is comprised of cleft palate, micrognathia, short or absent femora, and vertebral and genitourinary malformations. We report on a stillborn fetus with FFS delivered to a mother with gestational diabetes. Prenatal ultrasound examination showed abnormalities at 21 weeks of gestation; prior ultrasound findings were interpreted as ...

The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic ...

Fronto-facio-nasal dysplasia is a rare cause of facial clefts. The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. In addition affected children have ocular malformations such as epibulbar dermoids and ...

Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358-360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of ...

We describe a Brazilian girl presenting Ohdo syndrome with cleft palate and diverticula of the bladder. Gestational history revealed the occurrence of fever for 12 days in the second month of gestation. To our knowledge, cleft palate and urinary abnormalites are hitherto undescribed features of this syndrome. Additional case reports ...

We report on a patient with EEC/EECUT syndrome and concomitant hypoplasia of the thymus and reduction of T cells in secondary lymphatic organs. The patient was born prematurely at 35 weeks of gestational age and exhibited ectodermal dysplasia, ectrodactyly, cleft palate and urinary tract abnormalities. On the left side, a ...

We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, ...

We report on 2 brothers with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-pituitary insufficiency. Both had hypogonadotropic hypogonadism. One brother had partial TSH and prolactin deficiency, and the other had mild primary hypothyroidism, due most probably to irradiation therapy which he had undergone a few years earlier because of Hodgkin disease. ...

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe ...

We report on a patient with multiple congenital anomalies including anophthalmia, cleft lip and palate, and central nervous system anomalies similar to the case reported by Leichtman et al. [1994: Am J Med Genet 50:39-41] and to oculocerebrocutaneous (Delleman) syndrome. Although the two cases and those with oculocerebrocutaneous syndrome may ...

A review of clinical findings in 12 children with Kabuki syndrome revealed a high prevalence of otolaryngologic problems, including dysmorphic pinnae (100%), ear disease (92%), hearing loss (82%) and airway problems (58%). The high prevalence of ear disease and hearing loss was not explained solely on the basis of prevalence ...

A boy with multiple congenital anomalies including median cleft palate, bilateral hearing loss, clino- and camptodactyly, bilateral single palmar flexion creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, failure to thrive, bilateral cryptorchidism and facial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a small nose with anteverted nostrils, ...

Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. In these syndromes, alopecia is primarily due to abnormalities of the hair shaft associated with increased hair fragility. Scalp dermatitis is yet another peculiar finding, primarily seen in the ankyloblepharon-ED-clefting (AEC) syndrome. ...

In the consecutive evaluation of 3000 cranial MR imaging and CT examinations in pediatric patients we found 13 patients with cerebellar vermian clefts. Three of these belonged to asymptomatic patients, and 10 to those with Joubert's syndrome. Although, the only known condition associated with a developmental cleft in the cerebellar ...

We report a case of the sonographic detection of oculoauriculovertebral dysplasia in a fetus at 15 weeks' gestation. An early diagnosis was suggested by observation of a maxillar cleft in association with unilateral microphthalmia. In the presence of microphthalmia the syndrome is likely to include mental retardation. When the diagnosis ...