1/103. Aplasia of the vertex without scalp defect.We report a case of an extremely rare craniofacial condition, which, to our knowledge, has previously been reported once only. A male infant presented with a giant congenital bone defect of the skull, in the vertex region (10 x 20 cm) and without scalp deficiency. Minimal turricephaly and moderate orbital hypertelorism were associated with slight limb abnormalities, but psychometrical assessments appeared normal. Nonsurgical treatment was initially decided upon, but spontaneous reossification was so moderate that skull reconstruction was carried out at 28 months of age because of the risk of trauma. A full-size resin cephalic skeletal reconstruction was obtained according to three-dimensional computed tomography using stereolithographic techniques. A titanium plate was customized on the resin model for ideal adaptation to the convex skull defect (8 x 16 cm). Surgery was simply performed, consisting of a preliminary undermining between the dura mater and the scalp and screwing of the custom titanium plate. The initial follow-up was uneventful.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
2/103. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 5keywords = q (Clic here for more details about this article) |
3/103. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.We report on a boy with congenital pure red blood cell aplasia [diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.- - - - - - - - - - ranking = 549.16438122209keywords = deletion, q (Clic here for more details about this article) |
4/103. holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.- - - - - - - - - - ranking = 10keywords = q (Clic here for more details about this article) |
5/103. Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p.We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridization we defined the exact breakpoints of the translocation and ruled out the possibility of a centric fission in the mother's chromosomes.- - - - - - - - - - ranking = 2keywords = q (Clic here for more details about this article) |
6/103. 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.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
7/103. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development. An MRI of the head showed bilateral frontal pachygyria but no sign of heterotopia. The unique features of our patient suggest that he represents a new syndrome.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
8/103. Surgical treatment of frontoethmoidal encephalocele: a case report.This study reports a patient affected by congenital frontoethmoidal encephalocele. The cause of this malformation is unknown. A preoperative selective diagnosis evaluation is necessary. The workup should include an accurate clinical examination associated with radiological study (two- and three-dimensional computed tomography, magnetic resonance imaging, etc). The aim of the surgical treatment is to restore the functional brain tissue in the cranial cavity, perform dural repair, correct bone lack and other associated facial malformations (hypertelorism, orbital dystopia, etc.). A multidisciplinary team approach is necessary to resolve the brain herniation and to correct splanchnocranium malformations frequently associated with encephalocele. Cranial flap with orbital osteotomies has been performed; this operation permits correction of the hypertelorism and of the orbital dystopia associated with this malformation. In bone reconstructions, miniplates have been used as fixation devices. In adults we generally use titanium, but resorbable devices are required in children because of growing tissues. A restoration of craniofacial malformations with good aesthetic and functional results is achieved with early surgery.- - - - - - - - - - ranking = 2keywords = q (Clic here for more details about this article) |
9/103. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6p25.1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation. We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness.- - - - - - - - - - ranking = 3keywords = q (Clic here for more details about this article) |
10/103. A case of false median cleft of upper lip with IV-A holoprosencephaly that underwent cheiloplasty at 2.5 years of age.holoprosencephaly results from the incomplete development of midline structures within the cerebrum and encompasses a series of abnormalities of mid-facial development. Here, we report a case of male holoprosencephaly associated with false median cleft of upper lip. This patient belonged clinically to the DeMyer's group IV holoprosencephaly, semilobar type. An infant with this type of holoprosencephaly has been thought to die generally within 1 to 2 years after birth and to rarely benefit from an operation. In this case, the patient had cheiloplasty at the age of 2.5 years at the request of his parents and he lives currently, being 3 years and 2 months old.- - - - - - - - - - ranking = 1keywords = q (Clic here for more details about this article) |
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