File:Pitt-rogers-danks syndrome.jpg
Summary
Patient aged 3 months (a,b) and 13 years (c,d) with 4p deletion. The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. <a href="https://en.wikipedia.org/wiki/Apgar_score" class="extiw" title="en:Apgar score">en:Apgar scores</a> were 10/1, 10/5. One older sibling was healthy. She thrived poorly and was found to be generally hypotonic 2 months old. Her development was retarded and she was admitted to hospital several times with infections and febrile convulsions. A chromosome analysis and metabolic screening at the time was normal. She was treated for epilepsy from the age of 2 years. Feeding problems were pronounced, and she was considered to have an autistic disorder. Her development corresponded to approximately 11–15 months at the age of 2 1/2 years. As she grew up she became fond of eating. MRI of the brain at the age of 9 years was normal. Menarche occurred at the age of 11 years. She had well-developed gross motor and some language skills at the age of 15 years. She was referred to subtelomere chromosome analysis at the age of 12 years because of MR, dwarfism with growth corresponding to -3SD (146 cm and 43 kg), hypotonia and dysmorphic features including microcephalia, micrognathia and protrusion of the eyeballs. Patient had deletion of 4pter including the <a href="https://en.wikipedia.org/wiki/Wolf-Hirschhorn_syndrome" class="extiw" title="en:Wolf-Hirschhorn syndrome">en:Wolf-Hirschhorn syndrome</a> region. This patient's phenotype was relatively mild and correlated with some patients previously described with similar 4p16.3 microdeletions. Some patients have been designated <a href="https://en.wikipedia.org/wiki/Pitt_syndrome" class="extiw" title="en:Pitt syndrome">en:Pitt syndrome</a> (Pitt-Rogers-Danks syndrome, PRDS), but recently it was argued that Pitt and Wolf-Hirshhorn syndromes represent phenotypic variations of the same microdeletion"
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 00:44, 14 January 2017 | | 1,200 × 1,394 (324 KB) | 127.0.0.1 (talk) | Patient aged 3 months (a,b) and 13 years (c,d) with 4p deletion. The patient was born to healthy, unrelated parents. She was born at 40 weeks of gestation with a birth weight of 2500 g, birth length of 46 cm and head circumference of 28.6 cm. <a href="https://en.wikipedia.org/wiki/Apgar_score" class="extiw" title="en:Apgar score">en:Apgar scores</a> were 10/1, 10/5. One older sibling was healthy. She thrived poorly and was found to be generally hypotonic 2 months old. Her development was retarded and she was admitted to hospital several times with infections and febrile convulsions. A chromosome analysis and metabolic screening at the time was normal. She was treated for epilepsy from the age of 2 years. Feeding problems were pronounced, and she was considered to have an autistic disorder. Her development corresponded to approximately 11–15 months at the age of 2 1/2 years. As she grew up she became fond of eating. MRI of the brain at the age of 9 years was normal. Menarche occurred at the age of 11 years. She had well-developed gross motor and some language skills at the age of 15 years. She was referred to subtelomere chromosome analysis at the age of 12 years because of MR, dwarfism with growth corresponding to -3SD (146 cm and 43 kg), hypotonia and dysmorphic features including microcephalia, micrognathia and protrusion of the eyeballs. Patient had deletion of 4pter including the <a href="https://en.wikipedia.org/wiki/Wolf-Hirschhorn_syndrome" class="extiw" title="en:Wolf-Hirschhorn syndrome">en:Wolf-Hirschhorn syndrome</a> region. This patient's phenotype was relatively mild and correlated with some patients previously described with similar 4p16.3 microdeletions. Some patients have been designated <a href="https://en.wikipedia.org/wiki/Pitt_syndrome" class="extiw" title="en:Pitt syndrome">en:Pitt syndrome</a> (Pitt-Rogers-Danks syndrome, PRDS), but recently it was argued that Pitt and Wolf-Hirshhorn syndromes represent phenotypic variations of the same microdeletion" |
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