Disease: Corpus callosum agenesis polysyndactyly
- <em>FGFR1</em>-Related Hartsfield Syndrome
- A de novo GLI3 mutation in a patient with acrocallosal syndrome
- A large duplication involving the IHH locus mimics acrocallosal syndrome
- A turner syndrome patient carrying a mosaic distal x chromosome marker
- Acrocallosal syndrome in fetus: focus on additional brain abnormalities
- Acrocallosal syndrome: a case report
- Acrocallosal syndrome: a case report and literature survey
- Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly)
- Agenesis of the corpus callosum and limbic malformation in Apert's syndrome
- Agenesis of the corpus callosum and limbic malformations revisited
- Agenesis of the corpus callosum in Apert syndrome?
- Agenesis of the corpus callosum. Its associated anomalies and syndromes with special reference to the Apert syndrome
- Anesthetic management of a child with acrocallosal syndrome
- Apert syndrome: what prenatal radiographic findings should prompt its consideration?
- Apert's syndrome with occipital encephalocele and absence of corpus callosum
- Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former
- Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review
- Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?
- Central nervous system and cervical spine abnormalities in Apert syndrome
- Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case
- Computed tomography of abnormally shaped pediatric cranium
- Congenital cytomegalovirus infection associated with anomalies of the left foot
- Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome
- Cryptophthalmos with an orbital cyst and profound mental and motor retardation
- Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism
- Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases
- Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
- Enhancer-adoption as a mechanism of human developmental disease
- Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn
- Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
- Further delineation of the acrocallosal syndrome
- Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn
- Greig Cephalopolysyndactyly Syndrome
- Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family
- Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome
- Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review
- Hedgehogs in the clinic
- Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35)
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Hypogenitalism in the acrocallosal syndrome
- Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation
- Kallmann syndrome
- Location, location, cis-mutation
- Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
- Magnetic resonance imaging in the malformative syndromes with mental retardation
- Metopic craniosynostosis due to mutations in GLI3: A novel association
- Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both
- MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY
- Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome
- New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria
- Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome
- Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome
- Oral-Facial-Digital Syndrome Type I
- ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE)
- Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study
- Orofaciodigital syndrome with cerebral dysgenesis
- Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family
- Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate
- Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure
- Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum
- Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome?
- Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
- Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities
- Prevention of ochratoxin A-induced neural tube defects by folic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn
- Psychosis in Apert's syndrome with partial agenesis of the corpus callosum
- Ritscher-Schinzel (3C) syndrome: documentation of the phenotype
- Screening for fetal anomalies during the first trimester of pregnancy: transvaginal versus transabdominal sonography
- Selected clinical research involving the central nervous system
- The acrocallosal syndrome and Greig syndrome are not allelic disorders
- The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance
- The acrocallosal syndrome. Report of an additional case
- The central nervous system in the Apert syndrome
- Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway
- Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
- Vici syndrome in siblings born to consanguineous parents