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We report an Omani child from an inbred family with a combination of hypocalvaria, intrauterine growth retardation, craniofacial disproportion, partial synostosis of the right coronal suture and a small mandible associated with congenital heart defect and bowing of the limbs. A literature search failed to reveal a similar case.
Congenital nasolacrimal duct obstruction (in the literature also called congenital nasolacrimal mucocele or dacryocystocele) presents either as a simple nasolacrimal obstruction with epiphora or as a complicated obstruction on both sides of the lacrimal sac with midfacial deformation and respiratory insufficiency. Five neonates were treated for such complicated congenital nasolacrimal duct obstruction. Symptoms varied from an inner canthal purple-red swelling in the medial corner of the eye, with epiphora, to a serious midfacial deformation with respiratory insufficiency. The presence of a bilateral nasolacrimal mucocele leads to a broadened nasal bridge, which may be falsely interpreted as a dysmorphic feature of a congenital syndrome. Recognition of the condition allows a quick and efficient diagnosis and prevents unnecessary diagnostic procedures and anxiety. Differential diagnosis mainly includes frontobasal encephalocele and haemangioma. Treatment consists of massage, and catheterization if necessary.
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A r(4) was observed in a 5-year-old female patient, with growth retardation, a near normal psychomotor development and with no major dysmorphism. The break points were in p16 and q33. After comparison with other known observations of r(4) it is suggested that the phenotype of monosomy 4p is due to monosomy for the distal band 4p16.
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Two nonrelated, moderately mentally retarded girls are described with identical clinical signs and symptoms, i.e. brachycephaly, typical facies with thin lips and microstomia, ectomorphic habitus with extreme long, thin fingers and toes and hypoplastic external genitalia. The clinical findings in the present patients allow for the delineation of a new MCA/MR syndrome.
We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome.
Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder.
BACKGROUND: The 22q11.2 chromosome deletion syndrome occurs at a frequency of 1 in 4000 live births. Fluorescent in situ hybridization is a reliable means of testing for this genetic abnormality. OBJECTIVE: To describe the otolaryngologic manifestations of the 22q11.2 deletion syndrome to improve recognition and management of these disorders. PATIENTS AND DESIGN: A retrospective medical record review of 102 patients with chromosome 22q 11.2 deletions confirmed by fluorescent in situ hybridization. SETTING: A multidisciplinary 22q11.2 deletion clinic at an academic children's hospital. OUTCOME MEASURE: All otolaryngologic problems were recorded, including facial dysmorphic features, velopharyngeal insufficiency, speech and airway abnormalities, feeding difficulties, gastroesophageal reflux, hearing loss, otitis media, sinus problems, and vascular anomalies. Additionally, available objective test results were recorded, including those from audiograms, imaging studies, endoscopies, speech evaluations, and vascular studies. RESULTS: Dysmorphic facial features were found in most patients. Velopharyngeal incompetence was noted in 76 patients, while overt submucosal clefts were found in 11 patients. Most patients had speech and language delays. In addition, 53 patients had chronic or recurrent otitis media, and 28 had recurrent sinorhinitis. Furthermore, feeding problems were found in 48 patients, while vascular anomalies of the head and neck were found in 16 patients. CONCLUSION: Otolaryngologic abnormalities are relatively common and important to recognize with the 22q11.2 deletion syndrome.
Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome.
A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de novo unbalanced translocation, causing partial monosomy 1p36 and partial trisomy 18q22. Monosomy 1p was confirmed by FISH, and trisomy of the distal part of chromosome 18q was demonstrated by microFISH. Gene copy number changes in these chromosomal regions were determined by array-CGH. The absence of a number of facial dysmorphic signs, and the presence of clitoris hypertrophy indicate that the combination of a del(1p36->pter) with a dup(18q22->qter) may lead to a unique phenotypic constellation. The findings at birth and at age 12 years in our patient are compared with genotype-phenotype correlations discussed in the literature.