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Patel-Bixler Syndrome


Presentation

  • Clinical presentation of craniosynostosis syndromes Isolated craniosynostosis : In this group, there is premature fusion of one or more of the sutures of the skull. This can be in the form of coronal synostosis.[ncbi.nlm.nih.gov]
  • Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. PLoS One. 2013;8:e77827. Wenger TL, Harr M, Ricciardi S, et al.[rarediseases.org]
Developmental Delay
  • The characteristic features are cutis gyrata involving the back of scalp, lumbosacral region, along with furrowed palms and soles; and acanthosis nigricans.[ 2, 10 ] There can be cloverleaf skull, hydrocephalus, developmental delay, and bifid scrotum.[ncbi.nlm.nih.gov]
Syndactyly of Second and Third Toes
  • Jackson-Weiss syndrome : These patients have craniosynostosis with midfacial hypoplasia, broad halluces with medial deviation, and cutaneous syndactyly of second and third toes.[ 1, 15 ] Craniosynostosis mental retardation syndrome of Lin and Gettig :[ncbi.nlm.nih.gov]
Prognathism
  • The feet with extensive syndactyly are shown in (b) Crouzon syndrome : These patients usually have long face with proptosis, maxillary hypolasia, and a prominent jaw (mandibular prognathism). There is conductive hearing loss.[ncbi.nlm.nih.gov]
Macrocephaly
  • Craniometaphyseal dysplasia manifests with macrocephaly, proptosis, hypocalcemia, hyperparathyroidism, wide metaphyses, and sensorineural deafness.[ncbi.nlm.nih.gov]
Brachydactyly
  • She had short stature, mental retardation, triangular faces, prominent eyes, low set ears, short neck, brachydactyly, and cyanotic heart disease Carpenter syndrome : There is brachycephaly with synostosis of coronal, lambdoid, and sagittal sutures; midface[ncbi.nlm.nih.gov]
Acrocephaly
  • Saethre-Chotzen syndrome : These patients have short stature, brachycephaly, acrocephaly, plagiocephaly, facial asymmetry, hypertelorism, beaked nose, deafness, and cardiac defect.[ 1, 4 ] There can be ptosis, buphthalmos, brachydactyly, syndactyly, clinodactyly[ncbi.nlm.nih.gov]
Low Set Ears
  • Baller-Gerold syndrome : There is short stature, mental retardation, turribrachycephaly, hypertelorism, prominent nasal bridge, micrognathia, and low set ears.[ 1, 2 ] The synostosis involves coronal, metopic, and lambdoid sutures.[ncbi.nlm.nih.gov]
Beak Nose
  • Saethre-Chotzen syndrome : These patients have short stature, brachycephaly, acrocephaly, plagiocephaly, facial asymmetry, hypertelorism, beaked nose, deafness, and cardiac defect.[ 1, 4 ] There can be ptosis, buphthalmos, brachydactyly, syndactyly, clinodactyly[ncbi.nlm.nih.gov]
Mandibular Prognathism
  • The feet with extensive syndactyly are shown in (b) Crouzon syndrome : These patients usually have long face with proptosis, maxillary hypolasia, and a prominent jaw (mandibular prognathism). There is conductive hearing loss.[ncbi.nlm.nih.gov]
Frontal Bossing
  • The characteristic features include forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull, with no hand/foot abnormalities.[ 4 ] Most affected individuals were myopic or hyperopic. Intelligence was normal.[ncbi.nlm.nih.gov]

Treatment

  • Craniofrontonasal dysplasia: A surgical treatment algorithm. Plast Reconstr Surg. 2007; 120 :1943–56. [ PubMed ] [ Google Scholar ] 30. Clayman MA, Murad GJ, Steele MH, Seagle MB, Pincus DW.[ncbi.nlm.nih.gov]
  • Effect of long-term GH treatment in a patient with CHARGE association. Ital J Pediatr. 2014;40:51. Friedmann DR, Amoils M, Germiller JA, et al. Venous malformations of the temporal bone are a common feature in CHARGE syndrome.[rarediseases.org]

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